Table 1 Yield of rare potentially deleterious variants^a in 42 probands with familial DCM

From: Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

Proband ID	Gene	Variant	Variant type	ACMG classification	Detection method
					PS	WGS
AA-II-3	TTN	c.72824A>T, p.K24275I	SNV; missense	VUS		X
AA-II-3	*BAG3*	Chr10:121436136-121436726 del, Chr10:121436139-121436799 dup	SV; deletion/duplication	Pathogenic		X
AF-III-6	MYH6	c.5002G>A, p.D1668N	SNV; missense	Likely benign	X	X
	TTN	c.94553T>C, p.V31518A	SNV; missense	VUS		X
	*SGCB*	c.1_2delAT, p.M1Gfs	INDEL; frameshift deletion	Likely pathogenic		X
AJ-II-2	TTN	c.95722T>C, p.Y31908H	SNV; missense	VUS	X	X
AJ-II-2	RYR2	c.8209_-4T>C	SNV; splice	VUS		X
AM-III-7	DMD	c.3816G>C, p.L1272F	SNV; missense	VUS	X	X
	*TTN*	c.59351delT, p.E19785fs	SNV; deletion	Pathogenic	X	X
	ADRA1A	c.1022_1035delGACGCCACCAGGCC, p.A469fs	INDEL; in-frame deletion	VUS		X
	PLEC	c.7477C>T, p.Q2493*	SNV; stop codon	VUS		X
AP-III-4	TTN	c.44818C>T, p.P14940S	SNV; missense	VUS	X	X
AP-III-4	*TTN*	c.47692C>T, p.R15898*	SNV; stop codon	Likely pathogenic	X	X
AT-III-1	DMD	c.6T>G, p.S2R	SNV; missense	VUS	X	X
	NEB	c.8683G>A, p.D2895N	SNV; missense	VUS	X	X
	MYO18B	c.1692+2_1692+29delTGAGTCCCCTGTCCCGCCGTCCCCCCCAGCA	INDEL; splice deletion	VUS		X
AV-IV-2	TTN	c.41860T>C, p.Y13954H	SNV; missense	VUS	X	X
	*TTN*	c.78095_78098delGAAA, p.R26032fs	INDEL; frameshift deletion	Pathogenic	X	X
	TTN	c.81038G>A, p.R27013Q	SNV; missense	VUS	X	X
	NEB	c.16561G>A, p.D5521N	SNV; missense	VUS		X
BA-III-3	NEBL	c.1258A>G, p.I420V	SNV; missense	VUS	X	X
	*TTN*	c.13900G>T, p.E4634*	SNV; stop codon	Pathogenic	X	X
	TTN	c.47191C>T, p.R15731C	SNV; missense	VUS	X	X
	SYNE1	c.13909G>A, p.D4637N	SNV; missense	VUS	X	X
	SYNE1	c.23315G>C, p.R7772Q	SNV; missense	VUS		X
BF-III-1	NEB	c.2533A>G, p.K845E	SNV; missense	VUS	X	X
BF-III-1	BDKRB1	c.844C>T, p.R282*	SNV; stop codon	VUS		X
BG-III-1	NEB	c.25367C>T, p.T8456M	SNV; missense	VUS	X	X
	MYH7	c. 4828G>C, p.E1610Q	SNV; missense	VUS	X	X
	TTN	c.3002T>G, p.M1001R	SNV; missense	VUS	X	X
	TTN	c.30485C>T, p.T10162M	SNV; missense	VUS	X	X
	TRDN	Chr6:123509665-124330720dup	SV; duplication	VUS		X
BK-III-3	ALMS1	c.1343C>G, p.T448R	SNV; missense	Likely benign	X	X
	*MYH7*	c.2207T>C, p.I736T	SNV; missense	Likely pathogenic	X	X
	SYNM	c. 499C>T, p.R167C	SNV; missense	VUS		X
	TRIM63	c.739C>T, p.Q247*	SNV; stop codon	VUS		X
BL-III-2	*LAMP2*	c.183_+2T>C	SNV; splice	Pathogenic	X	X
BL-III-2	DSC2	Chr18:28681558-28686269del	SV; deletion	VUS		X
BM-III-25	*TTN*	c.56834delC, p.G18945fs	SNV; deletion	Pathogenic	X	X
	LAMA2	c.1634T>A, p.L545Q	SNV; missense	VUS		X
	NEB	c.5555TG, p.M1852R	SNV; missense	VUS		X
BP-III-3	NEB	c.21685G>C, p.D7229H	SNV; missense	VUS	X	X
	DSP	c.5874_5789delAGAAAC, p.ET1929-1930del	INDEL; in-frame deletion	Likely benign		X
	SCN4A	c.1800C>A, p.Y600*	SNV; stop codon	VUS		X
	RYR2	c.14757-7_14757-6delTCinsAT	INDEL; splice	VUS		X
BR-IV-1	LAMA2	c.4645A>T, p.N1549Y	SNV; missense	VUS	X	X
	TTN	c.54710T>C, p.L18237P	SNV; missense	VUS	X	X
	*TTN*	c.78991C>T, p.R26331*	SNV; stop codon	Pathogenic	X	X
	SCN1B	Chr19:35531062-35531134del	SV; deletion	VUS		X
	MURC	c.692_712delGAGAGAGGCTAAGGCAGTCAG, p.ERLRQSG231-238del	INDEL; in-frame deletion	Likely benign		X
	TLL2	c.1232delT, p.V411*	SNV; stop codon	VUS		X
BY-III-4	*BAG3*	c.361C>T, p.R121*	SNV; stop codon	Pathogenic	X	X
	NEB	c.22813G>A, p.E7640K	SNV; missense	VUS	X	X
	SYNE1	c.9148C>G, p.L3050V	SNV; missense	VUS	X	X
	DSG2	c.473T>G, p.V158G	SNV; missense	Likely benign		X
	SYNE1	c.1762delT, p.L588*	SNV; stop codon	VUS		X
C-II-9	NEB	c.9352A>T, p.T3118S	SNV; missense	Likely benign	X	X
	SCN5A	c.5872C>T, p.R1958*	SNV; stop codon	VUS	X	X
	CTNNA3	Chr10:68286145-68513397del	SV; deletion	VUS		X
CI-II-2	TTN	c.88033A>G, p.T29345A	SNV; missense	VUS	X	X
CS-III-12	CAV3	c.216C>G, p.C72W	SNV; missense	Likely benign	X	X
	PSEN2	c.211C>T, p.R104W	SNV; missense	Likely benign	X	X
	*TTN*	c.69491-69492delTG, p.V23164fs	INDEL; frameshift deletion	Likely Pathogenic	X	X
	ANO5	c.191delA, p.N64fs	SNV; deletion	VUS		X
CT-II-2	TTN	c.54380G>C, p.G18127A	SNV; missense	VUS	X	X
CT-II-2	*TTN*	c.76116dupT, p.N25372fs	SNV; deletion	Pathogenic	X	X
CZ-III-4	FLT1	c.2023A>G, p.S675G	SNV; missense	VUS	X	X
	*MYH7*	c.1105G>A, p.R369Q	SNV; missense	Pathogenic	X	X
	TTN	c.54109C>T, p.R18037W	SNV; missense	VUS	X	X
	PDE4DIP	c.54G>T, p.C18*	SNV; stop codon	VUS		X
DD-III-4	*MYH7*	c.2620G>C, p.E874Q	SNV; missense	Likely Pathogenic	X	X
	SYNE1	c.25856T>C, p.L8619P	SNV; missense	VUS	X	X
	XIRP2	Chr2:167868183-168522158del	SV; deletion	VUS		X
DF-III-1	MYH7	c.1578_+1G>A	SNV; splice	VUS	X	X
	SCN5A	c.3305C>A, p.S1102Y	SNV; missense	VUS	X	X
	FLNC	c.7170C>A, p.C2369*	SNV; stop codon	VUS		X
DI-II-6	*TTN*	c.74880_74883dupAACA, p.P24962fs	INDEL; frameshift insertion	Pathogenic	X	X
DO-II-4	TTN	c.95173T>C, p.C31725R	SNV; missense	VUS	X	X
	EMD	c.428C>T, p.S143F	SNV; missense	Likely benign		X
	*NKX2-5* ^b	c.552C>G, p.I184M	SNV; missense	Likely pathogenic		X
	SYNE2	c.18065insT, p.A6022A*	SNV; deletion	VUS		X
EA-II-7	NEXN	c.1955A>G, p.Y652C	SNV; missense	VUS	X	X
	*TTN*	c.78991C>T, p.R26331*	SNV; stop codon	Pathogenic	X	X
	TTN	c.104878C>T, p.R34960C	SNV; missense	VUS	X	X
	ASB15	c.1207G>T, p.G403*	SNV; stop codon	VUS		X
FJ-II-3	*ABCC9*	c.3096_+1delG	SNV; splice	Likely pathogenic	X	X
FJ-II-3	DTNA	c.239G>A, p.R80H	SNV; missense	VUS	X	X
FK-II-1	ACTN2	c.1192C>T, p.R398C	SNV; missense	VUS	X	X
	DES	c.1193T>C, p.L398P	SNV; missense	VUS	X	X
	LDB3	c.1414C>A, p.P472T	SNV; missense	VUS	X	X
	SYNE1	c.14848A>G, p.N4590D	SNV; missense	VUS	X	X
	TTN	c.102275G>A, p.R34092H	SNV; missense	VUS	X	X
	FRMD3	Chr9:85906635-85962244del	SV; deletion	VUS		X
FQ-III-11	NEB	c.21685G>C, p.D7229H	SNV; missense	VUS	X	X
	SCN5A	c.659C>T, p.T220I	SNV; missense	VUS	X	X
	*TTN*	c.56206delA, p.T18736fs	SNV; deletion	Likely pathogenic	X	X
	LAMA2	c.4487C>T, p.A1496V	SNV; missense	VUS		X
	AK1	Chr9:130621906-130645663dup	SV; duplication	VUS		X
GE-III-7	DSP	c.8531G>C, p.G2844A	SNV; missense	VUS	X	X
	TTN	c.95573A>G, p.N31858S	SNV; missense	VUS	X	X
	RYR1	c.13328-13348dupGGGGGCCCCTTCCGGCCCGAA, p.GGPFRPE4443-4449dup	INDEL; in-frame deletion	Likely benign		X
GR-II-6	No variants met criteria
GV-III-5	No variants met criteria
GW-III-1	SYNM	c.3274C>T, p.R1092C	SNV; missense	VUS	X	X
GW-III-1	LMNA	c.1567G>C, p.G523R	SNV; missense	VUS		X
HB-II-1	HPS3	Chr3:148874313-148882670del	SV; deletion	VUS		X
HT-II-1	No variants met criteria
HU-II-2	SGCA	c.929A>G, p.Y310C	SNV; missense	VUS	X	X
	TTN	c.14486A>C, p.Q4829P	SNV; missense	VUS	X	X
	TTN	c.75364G>A, p.V25122M	SNV; missense	VUS	X	X
ID- II-3	SYNE1	c.19981C>A, p.Q6661K	SNV; missense	VUS	X	X
KI-III-2	*TTN*	c.44284C>T, p.R14762*	SNV; stop codon	Pathogenic	X	X
	TTN	c.48953T>C, p.I16318T	SNV; missense	VUS	X	X
	TTN	c.97324G>A, p.A32442T	SNV; missense	VUS		X
KS-II-1	*RBM20*	c.1906C>T, p.R636C	SNV; missense	Pathogenic	X	X
MO-II-2	*TTN*	c.49458G>A, p.W16486*	SNV; stop codon	Pathogenic	X	X
	ACADVL	c.1077_+1G>T	SNV; splice	VUS		X
	MYOM2	c.52C>T, p.Q18*	SNV; stop codon	VUS		X
R-IV-1	NEBL	c.2588C>G, p.S863C	SNV; missense	VUS	X	X
	*TTN*	c.76116dupT, p.N25372fs	SNV; insertion	Pathogenic	X	X
	FLNC	c.3791_-8G>A	SNV; splice	VUS		X
S-III-1	LAMA2	c.7415G>T, p.G2472V	SNV; missense	VUS	X	X
	PSEN2	c.211C>T, p.R104W	SNV; missense	Likely benign	X	X
	TTN	c.30389G>A, p.R10130H	SNV; missense	VUS	X	X
	TTN	c.100432T>G, p.W33478G	SNV; missense	VUS	X	X
	TTN	c.100447G>C, p.E33482Q	SNV; missense	VUS		X

ACMG American College of Medical Genetics and Genomics, DCM dilated cardiomyopathy, INDEL small insertion or deletion, PS targeted panel sequencing, SNV single-nucleotide variant, SV structural variant, VUS variant of unknown significance, GS genome sequencing
^aPotential disease-causing variants are shown in bold
^bVariant identified by candidate gene screening

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Table 1 Yield of rare potentially deleterious variants^a in 42 probands with familial DCM

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