Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)	SNV Germline	Chr3:32140231	Conflicting classifications of pathogenicity	Brugada syndrome 2 SUDDEN INFANT DEATH SYNDROME Long QT syndrome Primary familial hypertrophic cardiomyopathy Condition: not provided not specified Cardiovascular phenotype Hypertrophic cardiomyopathy Brugada syndrome GPD1L-related disorder	Criteria Provided Conflicting Classifications	CA213881	rs_72552293	18 SubmittersRCV000000824 RCV000029945 RCV000157243 RCV000203752 RCV000170920 RCV000620285 RCV000852958 RCV001081825 RCV003952333
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)	SNV Germline	Chr3:38579416	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME Long QT syndrome 3, acquired, susceptibility to not specified Condition: not provided Progressive familial heart block, type 1A Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Brugada syndrome Dilated cardiomyopathy 1E Long QT syndrome 3 Cardiovascular phenotype Brugada syndrome 1 Cardiac arrhythmia Primary dilated cardiomyopathy Cardiomyopathy 8 conditions	Criteria Provided Conflicting Classifications	CA017028	rs_7626962	23 SubmittersRCV000009993 RCV000009992 RCV000041615 RCV000058563 RCV000304064 RCV000368908 RCV000396768 RCV000204216 RCV000274325 RCV000755696 RCV000621429 RCV001094834 RCV001841239 RCV003125829 RCV003149567 RCV002504776
NM_000363.5(TNNI3):c.575G>A (p.Arg192His)	SNV Germline	Chr19:55151892	Pathogenic	Cardiomyopathy, familial restrictive, 1 Hypertrophic cardiomyopathy Restrictive cardiomyopathy Primary familial hypertrophic cardiomyopathy Condition: not provided Hypertrophic cardiomyopathy Restrictive cardiomyopathy Cardiovascular phenotype SUDDEN INFANT DEATH SYNDROME Dilated cardiomyopathy 2A	Reviewed By Expert Panel	CA021957	rs_104894729	13 SubmittersRCV000013237 RCV000154212 RCV000157534 RCV000159242 RCV000629012 RCV000852483 RCV000619328 RCV003147282 RCV003388566
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)	SNV Germline	Chr19:55154146	Pathogenic	Cardiomyopathy, familial restrictive, 1 Condition: not provided Hypertrophic cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy Restrictive cardiomyopathy SUDDEN INFANT DEATH SYNDROME TNNI3-related disorder Hypertrophic cardiomyopathy 7 Dilated cardiomyopathy 1FF Cardiomyopathy, familial restrictive, 1 Dilated cardiomyopathy 2A Hypertrophic cardiomyopathy 7	Criteria Provided Multiple Submitters No Conflicts	CA021667	rs_104894724	20 SubmittersRCV000013239 RCV000159222 RCV000498333 RCV001170617 RCV001254730 RCV001787387 RCV004549357 RCV004795401 RCV005867745
NM_000814.6(GABRB3):c.650G>A (p.Arg217His)	SNV Germline	Chr15:26580351	Conflicting classifications of pathogenicity	Insomnia Epilepsy, childhood absence, susceptibility to, 5 Epilepsy, childhood absence, susceptibility to, 1 SUDDEN INFANT DEATH SYNDROME Developmental and epileptic encephalopathy, 43	Criteria Provided Conflicting Classifications	CA126256	rs_121913125	5 SubmittersRCV000017574 RCV000703382 RCV001787803 RCV003133118
NM_000256.3(MYBPC3):c.821+1G>A	SNV Germline/somatic	Chr11:47347856	Pathogenic	Condition: not provided Hypertrophic cardiomyopathy Cardiovascular phenotype Primary familial hypertrophic cardiomyopathy Cardiomyopathy Primary dilated cardiomyopathy SUDDEN INFANT DEATH SYNDROME Left ventricular noncompaction 10 Hypertrophic cardiomyopathy 4 MYBPC3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA015883	rs_397516073	29 SubmittersRCV000158313 RCV000168401 RCV000249601 RCV000845451 RCV001176299 RCV001375643 RCV001787823 RCV002288533 RCV001807754 RCV004549435
NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg)	SNV Germline	Chr11:2587576	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME Long QT syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA005370	rs_199472768	5 SubmittersRCV000057559 RCV000462343 RCV000505766
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)	SNV Germline	Chr11:2572885	Conflicting classifications of pathogenicity	Congenital long QT syndrome SUDDEN INFANT DEATH SYNDROME Condition: not provided not specified Long QT syndrome Short QT syndrome type 2 Atrial fibrillation, familial, 3 Long QT syndrome 1 Jervell and Lange-Nielsen syndrome 1 Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA008353	rs_199472728	11 SubmittersRCV000057771 RCV000148546 RCV000182121 RCV000219577 RCV001080930 RCV001108024 RCV001108025 RCV001102797 RCV001108026 RCV001841690 RCV002426616
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)	SNV Germline	Chr7:150948452	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME Long QT syndrome Long QT syndrome 2 Long QT syndrome 1 Condition: not provided Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA007147	rs_199473434	10 SubmittersRCV000058151 RCV000699702 RCV000988000 RCV001256913 RCV001588890 RCV001841715 RCV004019008
NM_000335.5(SCN5A):c.1595T>G (p.Phe532Cys)	SNV Germline	Chr3:38604007	Conflicting classifications of pathogenicity	Brugada syndrome Condition: not provided SUDDEN INFANT DEATH SYNDROME Cardiac arrhythmia 8 conditions Brugada syndrome 1	Criteria Provided Conflicting Classifications	CA015051	rs_199473573	8 SubmittersRCV000058434 RCV000182979 RCV000490338 RCV001842287 RCV002483110 RCV006434924
NM_000335.5(SCN5A):c.2039G>A (p.Arg680His)	SNV Germline	Chr3:38597952	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME not specified Condition: not provided Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA015757	rs_199473142	7 SubmittersRCV000058473 RCV000156507 RCV001699115 RCV001842306 RCV004019041
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)	SNV Germline	Chr3:38581170	Conflicting classifications of pathogenicity	Brugada syndrome SUDDEN INFANT DEATH SYNDROME Brugada syndrome Condition: not provided Ventricular fibrillation, paroxysmal familial, type 1 Long QT syndrome 3 Dilated cardiomyopathy 1E Progressive familial heart block, type 1A Sick sinus syndrome 1 Cardiac arrhythmia Cardiomyopathy Cardiovascular phenotype 8 conditions	Criteria Provided Conflicting Classifications	CA016710	rs_137854609	16 SubmittersRCV000058541 RCV000171570 RCV000766794 RCV001145179 RCV001145180 RCV001145181 RCV001147136 RCV001145182 RCV001842324 RCV003149712 RCV004019046 RCV005394295
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys)	SNV Germline	Chr3:38622401	Pathogenic/Likely pathogenic	Brugada syndrome Condition: not provided Cardiovascular phenotype Brugada syndrome 1 Sick sinus syndrome 1 Long QT syndrome Dilated cardiomyopathy 1E SUDDEN INFANT DEATH SYNDROME Brugada syndrome 1 Cardiac arrhythmia	Criteria Provided Multiple Submitters No Conflicts	CA018588	rs_199473062	12 SubmittersRCV000058710 RCV001699194 RCV002336213 RCV004786347 RCV005428999 RCV006547592
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)	SNV Germline	Chr3:38551477	Conflicting classifications of pathogenicity	Conduction system disorder Condition: not provided Brugada syndrome 1 Long QT syndrome 3 Sick sinus syndrome 1 SUDDEN INFANT DEATH SYNDROME Cardiovascular phenotype Brugada syndrome Brugada syndrome 1 Cardiac arrhythmia	Criteria Provided Conflicting Classifications	CA018735	rs_199473286	14 SubmittersRCV000058723 RCV000519341 RCV001258072 RCV001530198 RCV001787861 RCV002336214 RCV003996546 RCV003450919 RCV003591672
NM_000335.5(SCN5A):c.5284G>A (p.Val1762Met)	SNV Germline	Chr3:38551085	Pathogenic	Congenital long QT syndrome Condition: not provided SUDDEN INFANT DEATH SYNDROME Long QT syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA019062	rs_199473631	5 SubmittersRCV000058760 RCV000183112 RCV001787862 RCV004786351
NM_001267550.2(TTN):c.97492+1G>C	SNV Germline	Chr2:178542263	Pathogenic/Likely pathogenic	Primary dilated cardiomyopathy Condition: not provided Dilated cardiomyopathy 1G Autosomal recessive limb-girdle muscular dystrophy type 2J Cardiomyopathy SUDDEN INFANT DEATH SYNDROME Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA273675	rs_727505319	8 SubmittersRCV000156861 RCV000184284 RCV000462323 RCV000769868 RCV001788053 RCV002362834
NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu)	SNV Germline	Chr11:118137097	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME Long QT syndrome 10 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA199796	rs_140348243	5 SubmittersRCV000171568 RCV000234662 RCV000490150 RCV002354426
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)	SNV Germline	Chr3:38613782	Pathogenic	Condition: not provided Long QT syndrome 3 Cardiovascular phenotype 8 conditions Cardiac arrhythmia Brugada syndrome SUDDEN INFANT DEATH SYNDROME Brugada syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA019700	rs_794728849	10 SubmittersRCV000182937 RCV000709764 RCV002362939 RCV002485217 RCV003591705 RCV003996808 RCV006547762
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln)	SNV Germline	Chr2:178584743	Conflicting classifications of pathogenicity	Cardiovascular phenotype not specified Condition: not provided SUDDEN INFANT DEATH SYNDROME	Criteria Provided Conflicting Classifications	CA310295	rs_141965360	7 SubmittersRCV000619156 RCV001328439 RCV000714068 RCV001788062
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)	SNV Germline	ChrX:19359612	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency SUDDEN INFANT DEATH SYNDROME Pyruvate dehydrogenase complex deficiency	Reviewed By Expert Panel	CA323094	rs_863224147	10 SubmittersRCV000198575 RCV000497402 RCV001788065 RCV001796726
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)	SNV Germline	Chr17:70175158	Conflicting classifications of pathogenicity	Andersen Tawil syndrome Atrial fibrillation, familial, 9 Short QT syndrome type 3 Condition: not provided Short QT syndrome type 3 Andersen Tawil syndrome SUDDEN INFANT DEATH SYNDROME Short QT syndrome type 3 Andersen Tawil syndrome Atrial fibrillation, familial, 9 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8738692	rs_766143485	7 SubmittersRCV000308982 RCV000347359 RCV000406881 RCV000489623 RCV000795350 RCV001788198 RCV002487428 RCV002348069
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile)	SNV Germline	Chr21:34449462	Conflicting classifications of pathogenicity	Condition: not provided Long QT syndrome Primary dilated cardiomyopathy not specified SUDDEN INFANT DEATH SYNDROME Cardiovascular phenotype Long QT syndrome 5	Criteria Provided Conflicting Classifications	CA16043161	rs_747321794	7 SubmittersRCV000414735 RCV000539512 RCV000852543 RCV001002520 RCV001788209 RCV003372698 RCV004777659
NM_001165963.4(SCN1A):c.3886T>A (p.Leu1296Met)	SNV Germline	Chr2:166009835	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME Early-infantile DEE	Criteria Provided Conflicting Classifications	CA349053526	rs_375896308	2 SubmittersRCV001788307 RCV006607362
NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp)	SNV Germline	Chr19:55151911	Conflicting classifications of pathogenicity	Condition: not provided Cardiomyopathy SUDDEN INFANT DEATH SYNDROME Hypertrophic cardiomyopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA051839	rs_760978512	6 SubmittersRCV000658349 RCV001177934 RCV001788314 RCV001855374 RCV004026030
NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His)	SNV Germline	Chr19:13286691	Conflicting classifications of pathogenicity	Condition: not provided SUDDEN INFANT DEATH SYNDROME Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2	Criteria Provided Conflicting Classifications	CA9240350	rs_201647627	3 SubmittersRCV001564629 RCV001788589 RCV001882665
NM_001165963.4(SCN1A):c.2045G>T (p.Gly682Val)	SNV Germline	Chr2:166042423	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA349066188	rs_1697296215	3 SubmittersRCV001787410 RCV002422851 RCV004779139
NM_000335.5(SCN5A):c.3837+12C>T	SNV Germline	Chr3:38566397	Conflicting classifications of pathogenicity	SUDDEN INFANT DEATH SYNDROME Condition: not provided Brugada syndrome 1	Criteria Provided Conflicting Classifications	CA062323	rs_368550655	3 SubmittersRCV001787416 RCV003541667 RCV004698554
NM_001242896.3(DEPDC5):c.2446C>T (p.Gln816Ter)	SNV Germline	Chr22:31838776	Pathogenic/Likely pathogenic	SUDDEN INFANT DEATH SYNDROME Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA411286825	rs_2148968418	2 SubmittersRCV001787417 RCV002463033
NM_001242896.3(DEPDC5):c.2105-1G>A	SNV Germline	Chr22:31833914	Likely pathogenic	SUDDEN INFANT DEATH SYNDROME Familial focal epilepsy with variable foci	Criteria Provided Multiple Submitters No Conflicts	CA10196597	rs_781125997	2 SubmittersRCV001787420 RCV006557732
NM_001743.6(CALM2):c.340G>A (p.Gly114Arg)	SNV Germline	Chr2:47161804	Pathogenic	SUDDEN INFANT DEATH SYNDROME	No Assertion Criteria Provided	CA346719185	rs_2103823712	1 SubmittersRCV001787705

NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)

SNV
Germline

Chr3:32140231

Conflicting classifications of pathogenicity

Brugada syndrome 2
SUDDEN INFANT DEATH SYNDROME
Long QT syndrome
Primary familial hypertrophic cardiomyopathy
Condition: not provided
not specified
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Brugada syndrome
GPD1L-related disorder

Criteria Provided
Conflicting Classifications

CA213881

rs_72552293

18 SubmittersRCV000000824 RCV000029945 RCV000157243 RCV000203752 RCV000170920 RCV000620285 RCV000852958 RCV001081825 RCV003952333

NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)

SNV
Germline

Chr3:38579416

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
Long QT syndrome 3, acquired, susceptibility to
not specified
Condition: not provided
Progressive familial heart block, type 1A
Ventricular fibrillation, paroxysmal familial, type 1
Sick sinus syndrome 1
Brugada syndrome
Dilated cardiomyopathy 1E
Long QT syndrome 3
Cardiovascular phenotype
Brugada syndrome 1
Cardiac arrhythmia
Primary dilated cardiomyopathy
Cardiomyopathy
8 conditions

Criteria Provided
Conflicting Classifications

CA017028

rs_7626962

23 SubmittersRCV000009993 RCV000009992 RCV000041615 RCV000058563 RCV000304064 RCV000368908 RCV000396768 RCV000204216 RCV000274325 RCV000755696 RCV000621429 RCV001094834 RCV001841239 RCV003125829 RCV003149567 RCV002504776

NM_000363.5(TNNI3):c.575G>A (p.Arg192His)

SNV
Germline

Chr19:55151892

Pathogenic

Cardiomyopathy, familial restrictive, 1
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Primary familial hypertrophic cardiomyopathy
Condition: not provided
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Cardiovascular phenotype
SUDDEN INFANT DEATH SYNDROME
Dilated cardiomyopathy 2A

Reviewed By Expert Panel

CA021957

rs_104894729

13 SubmittersRCV000013237 RCV000154212 RCV000157534 RCV000159242 RCV000629012 RCV000852483 RCV000619328 RCV003147282 RCV003388566

NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)

SNV
Germline

Chr19:55154146

Pathogenic

Cardiomyopathy, familial restrictive, 1
Condition: not provided
Hypertrophic cardiomyopathy
Cardiomyopathy
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
TNNI3-related disorder
Hypertrophic cardiomyopathy 7
Dilated cardiomyopathy 1FF
Cardiomyopathy, familial restrictive, 1
Dilated cardiomyopathy 2A
Hypertrophic cardiomyopathy 7

Criteria Provided
Multiple Submitters
No Conflicts

CA021667

rs_104894724

20 SubmittersRCV000013239 RCV000159222 RCV000498333 RCV001170617 RCV001254730 RCV001787387 RCV004549357 RCV004795401 RCV005867745

NM_000814.6(GABRB3):c.650G>A (p.Arg217His)

SNV
Germline

Chr15:26580351

Conflicting classifications of pathogenicity

Insomnia
Epilepsy, childhood absence, susceptibility to, 5
Epilepsy, childhood absence, susceptibility to, 1
SUDDEN INFANT DEATH SYNDROME
Developmental and epileptic encephalopathy, 43

Criteria Provided
Conflicting Classifications

CA126256

rs_121913125

5 SubmittersRCV000017574 RCV000703382 RCV001787803 RCV003133118

NM_000256.3(MYBPC3):c.821+1G>A

SNV
Germline/somatic

Chr11:47347856

Pathogenic

Condition: not provided
Hypertrophic cardiomyopathy
Cardiovascular phenotype
Primary familial hypertrophic cardiomyopathy
Cardiomyopathy
Primary dilated cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Left ventricular noncompaction 10
Hypertrophic cardiomyopathy 4
MYBPC3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA015883

rs_397516073

29 SubmittersRCV000158313 RCV000168401 RCV000249601 RCV000845451 RCV001176299 RCV001375643 RCV001787823 RCV002288533 RCV001807754 RCV004549435

NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg)

SNV
Germline

Chr11:2587576

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
Long QT syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA005370

rs_199472768

5 SubmittersRCV000057559 RCV000462343 RCV000505766

NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)

SNV
Germline

Chr11:2572885

Conflicting classifications of pathogenicity

Congenital long QT syndrome
SUDDEN INFANT DEATH SYNDROME
Condition: not provided
not specified
Long QT syndrome
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008353

rs_199472728

11 SubmittersRCV000057771 RCV000148546 RCV000182121 RCV000219577 RCV001080930 RCV001108024 RCV001108025 RCV001102797 RCV001108026 RCV001841690 RCV002426616

NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)

SNV
Germline

Chr7:150948452

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
Long QT syndrome
Long QT syndrome 2
Long QT syndrome 1
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA007147

rs_199473434

10 SubmittersRCV000058151 RCV000699702 RCV000988000 RCV001256913 RCV001588890 RCV001841715 RCV004019008

NM_000335.5(SCN5A):c.1595T>G (p.Phe532Cys)

SNV
Germline

Chr3:38604007

Conflicting classifications of pathogenicity

Brugada syndrome
Condition: not provided
SUDDEN INFANT DEATH SYNDROME
Cardiac arrhythmia
8 conditions
Brugada syndrome 1

Criteria Provided
Conflicting Classifications

CA015051

rs_199473573

8 SubmittersRCV000058434 RCV000182979 RCV000490338 RCV001842287 RCV002483110 RCV006434924

NM_000335.5(SCN5A):c.2039G>A (p.Arg680His)

SNV
Germline

Chr3:38597952

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
not specified
Condition: not provided
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA015757

rs_199473142

7 SubmittersRCV000058473 RCV000156507 RCV001699115 RCV001842306 RCV004019041

NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)

SNV
Germline

Chr3:38581170

Conflicting classifications of pathogenicity

Brugada syndrome
SUDDEN INFANT DEATH SYNDROME
Brugada syndrome
Condition: not provided
Ventricular fibrillation, paroxysmal familial, type 1
Long QT syndrome 3
Dilated cardiomyopathy 1E
Progressive familial heart block, type 1A
Sick sinus syndrome 1
Cardiac arrhythmia
Cardiomyopathy
Cardiovascular phenotype
8 conditions

Criteria Provided
Conflicting Classifications

CA016710

rs_137854609

16 SubmittersRCV000058541 RCV000171570 RCV000766794 RCV001145179 RCV001145180 RCV001145181 RCV001147136 RCV001145182 RCV001842324 RCV003149712 RCV004019046 RCV005394295

NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys)

SNV
Germline

Chr3:38622401

Pathogenic/Likely pathogenic

Brugada syndrome
Condition: not provided
Cardiovascular phenotype
Brugada syndrome 1
Sick sinus syndrome 1
Long QT syndrome
Dilated cardiomyopathy 1E
SUDDEN INFANT DEATH SYNDROME
Brugada syndrome 1
Cardiac arrhythmia

Criteria Provided
Multiple Submitters
No Conflicts

CA018588

rs_199473062

12 SubmittersRCV000058710 RCV001699194 RCV002336213 RCV004786347 RCV005428999 RCV006547592

NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)

SNV
Germline

Chr3:38551477

Conflicting classifications of pathogenicity

Conduction system disorder
Condition: not provided
Brugada syndrome 1
Long QT syndrome 3
Sick sinus syndrome 1
SUDDEN INFANT DEATH SYNDROME
Cardiovascular phenotype
Brugada syndrome
Brugada syndrome 1
Cardiac arrhythmia

Criteria Provided
Conflicting Classifications

CA018735

rs_199473286

14 SubmittersRCV000058723 RCV000519341 RCV001258072 RCV001530198 RCV001787861 RCV002336214 RCV003996546 RCV003450919 RCV003591672

NM_000335.5(SCN5A):c.5284G>A (p.Val1762Met)

SNV
Germline

Chr3:38551085

Pathogenic

Congenital long QT syndrome
Condition: not provided
SUDDEN INFANT DEATH SYNDROME
Long QT syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA019062

rs_199473631

5 SubmittersRCV000058760 RCV000183112 RCV001787862 RCV004786351

NM_001267550.2(TTN):c.97492+1G>C

SNV
Germline

Chr2:178542263

Pathogenic/Likely pathogenic

Primary dilated cardiomyopathy
Condition: not provided
Dilated cardiomyopathy 1G
Autosomal recessive limb-girdle muscular dystrophy type 2J
Cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273675

rs_727505319

8 SubmittersRCV000156861 RCV000184284 RCV000462323 RCV000769868 RCV001788053 RCV002362834

NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu)

SNV
Germline

Chr11:118137097

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
Long QT syndrome 10
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA199796

rs_140348243

5 SubmittersRCV000171568 RCV000234662 RCV000490150 RCV002354426

NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)

SNV
Germline

Chr3:38613782

Pathogenic

Condition: not provided
Long QT syndrome 3
Cardiovascular phenotype
8 conditions
Cardiac arrhythmia
Brugada syndrome
SUDDEN INFANT DEATH SYNDROME
Brugada syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA019700

rs_794728849

10 SubmittersRCV000182937 RCV000709764 RCV002362939 RCV002485217 RCV003591705 RCV003996808 RCV006547762

NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln)

SNV
Germline

Chr2:178584743

Conflicting classifications of pathogenicity

Cardiovascular phenotype
not specified
Condition: not provided
SUDDEN INFANT DEATH SYNDROME

Criteria Provided
Conflicting Classifications

CA310295

rs_141965360

7 SubmittersRCV000619156 RCV001328439 RCV000714068 RCV001788062

NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)

SNV
Germline

ChrX:19359612

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
SUDDEN INFANT DEATH SYNDROME
Pyruvate dehydrogenase complex deficiency

Reviewed By Expert Panel

CA323094

rs_863224147

10 SubmittersRCV000198575 RCV000497402 RCV001788065 RCV001796726

NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)

SNV
Germline

Chr17:70175158

Conflicting classifications of pathogenicity

Andersen Tawil syndrome
Atrial fibrillation, familial, 9
Short QT syndrome type 3
Condition: not provided
Short QT syndrome type 3
Andersen Tawil syndrome
SUDDEN INFANT DEATH SYNDROME
Short QT syndrome type 3
Andersen Tawil syndrome
Atrial fibrillation, familial, 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8738692

rs_766143485

7 SubmittersRCV000308982 RCV000347359 RCV000406881 RCV000489623 RCV000795350 RCV001788198 RCV002487428 RCV002348069

NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile)

SNV
Germline

Chr21:34449462

Conflicting classifications of pathogenicity

Condition: not provided
Long QT syndrome
Primary dilated cardiomyopathy
not specified
SUDDEN INFANT DEATH SYNDROME
Cardiovascular phenotype
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA16043161

rs_747321794

7 SubmittersRCV000414735 RCV000539512 RCV000852543 RCV001002520 RCV001788209 RCV003372698 RCV004777659

NM_001165963.4(SCN1A):c.3886T>A (p.Leu1296Met)

SNV
Germline

Chr2:166009835

Conflicting classifications of pathogenicity

SUDDEN INFANT DEATH SYNDROME
Early-infantile DEE

Criteria Provided
Conflicting Classifications

CA349053526

rs_375896308