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 Primary familial hypertrophic cardiomyopathy Long QT syndrome not specified Condition: not provided Cardiovascular phenotype Hypertrophic cardiomyopathy Brugada syndrome GPD1L-related disorder	Criteria Provided Conflicting Classifications	CA213881	rs_72552293	18 SubmittersRCV000000824 RCV000029945 RCV000157243 RCV000170920 RCV000203752 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 Brugada syndrome Progressive familial heart block, type 1A Congenital long QT syndrome Ventricular fibrillation, paroxysmal familial, type 1 Sick sinus syndrome 1 Dilated cardiomyopathy 1E Cardiovascular phenotype Long QT syndrome 3 Brugada syndrome 1 Cardiac arrhythmia 8 conditions Primary dilated cardiomyopathy Cardiomyopathy	Criteria Provided Conflicting Classifications	CA017028	rs_7626962	22 SubmittersRCV000009993 RCV000009992 RCV000041615 RCV000058563 RCV000204216 RCV000304064 RCV000363449 RCV000368908 RCV000396768 RCV000274325 RCV000621429 RCV000755696 RCV001094834 RCV001841239 RCV002504776 RCV003125829 RCV003149567
NM_000363.5(TNNI3):c.575G>A (p.Arg192His)	SNV Germline	Chr19:55151892	Pathogenic	Cardiomyopathy, familial restrictive, 1 Primary familial hypertrophic cardiomyopathy Condition: not provided Hypertrophic cardiomyopathy Restrictive cardiomyopathy Cardiovascular phenotype Hypertrophic cardiomyopathy Restrictive cardiomyopathy Dilated cardiomyopathy 2A SUDDEN INFANT DEATH SYNDROME	Criteria Provided Multiple Submitters No Conflicts	CA021957	rs_104894729	11 SubmittersRCV000013237 RCV000157534 RCV000159242 RCV000154212 RCV000619328 RCV000629012 RCV000852483 RCV003388566 RCV003147282
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)	SNV Germline	Chr19:55154146	Pathogenic	Cardiomyopathy, familial restrictive, 1 Condition: not provided Hypertrophic cardiomyopathy Cardiomyopathy TNNI3-related disorder Hypertrophic cardiomyopathy Restrictive cardiomyopathy Dilated cardiomyopathy 1FF Hypertrophic cardiomyopathy 7 Dilated cardiomyopathy 2A Cardiomyopathy, familial restrictive, 1 SUDDEN INFANT DEATH SYNDROME	Criteria Provided Multiple Submitters No Conflicts	CA021667	rs_104894724	19 SubmittersRCV000013239 RCV000159222 RCV000498333 RCV001170617 RCV004549357 RCV001254730 RCV004795401 RCV001787387
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 Cardiomyopathy Primary familial hypertrophic cardiomyopathy Left ventricular noncompaction 10 Primary dilated cardiomyopathy Hypertrophic cardiomyopathy 4 SUDDEN INFANT DEATH SYNDROME MYBPC3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA015883	rs_397516073	25 SubmittersRCV000158313 RCV000168401 RCV000249601 RCV001176299 RCV000845451 RCV002288533 RCV001375643 RCV001807754 RCV001787823 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	4 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 1 Jervell and Lange-Nielsen syndrome 1 Long QT syndrome Short QT syndrome type 2 Atrial fibrillation, familial, 3 Cardiac arrhythmia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA008353	rs_199472728	10 SubmittersRCV000057771 RCV000148546 RCV000182121 RCV000219577 RCV001102797 RCV001108026 RCV001080930 RCV001108024 RCV001108025 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.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 Brugada syndrome SUDDEN INFANT DEATH 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	Criteria Provided Conflicting Classifications	CA016710	rs_137854609	15 SubmittersRCV000058541 RCV000171570 RCV000766794 RCV001145179 RCV001145180 RCV001145181 RCV001147136 RCV001145182 RCV001842324 RCV003149712 RCV004019046
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)	SNV Germline	Chr3:38551477	Pathogenic/Likely pathogenic	Conduction system disorder Condition: not provided Long QT syndrome 3 Brugada syndrome 1 SUDDEN INFANT DEATH SYNDROME Sick sinus syndrome 1 Cardiovascular phenotype Brugada syndrome 1 Cardiac arrhythmia Brugada syndrome	Criteria Provided Multiple Submitters No Conflicts	CA018735	rs_199473286	11 SubmittersRCV000058723 RCV000519341 RCV001258072 RCV001787861 RCV001530198 RCV002336214 RCV003450919 RCV003591672 RCV003996546
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_001267550.2(TTN):c.64898G>A (p.Arg21633Gln)	SNV Germline	Chr2:178584743	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided not specified SUDDEN INFANT DEATH SYNDROME	Criteria Provided Conflicting Classifications	CA310295	rs_141965360	7 SubmittersRCV000619156 RCV000714068 RCV001328439 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	8 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 Andersen Tawil syndrome Short QT syndrome type 3 SUDDEN INFANT DEATH SYNDROME Andersen Tawil syndrome Atrial fibrillation, familial, 9 Short QT syndrome type 3 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 not specified Primary dilated cardiomyopathy SUDDEN INFANT DEATH SYNDROME Cardiovascular phenotype Long QT syndrome 5	Criteria Provided Conflicting Classifications	CA16043161	rs_747321794	7 SubmittersRCV000414735 RCV000539512 RCV001002520 RCV000852543 RCV001788209 RCV003372698 RCV004777659
NM_001165963.4(SCN1A):c.3886T>A (p.Leu1296Met)	SNV Germline	Chr2:166009835	Conflicting classifications of pathogenicity	Early infantile epileptic encephalopathy with suppression bursts SUDDEN INFANT DEATH SYNDROME	Criteria Provided Conflicting Classifications	CA349053526	rs_375896308	2 SubmittersRCV000636357 RCV001788307
NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp)	SNV Germline	Chr19:55151911	Conflicting classifications of pathogenicity	Condition: not provided Hypertrophic cardiomyopathy Cardiovascular phenotype Cardiomyopathy SUDDEN INFANT DEATH SYNDROME	Criteria Provided Conflicting Classifications		rs_760978512	6 SubmittersRCV000658349 RCV001855374 RCV004026030 RCV001177934 RCV001788314
NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His)	SNV Germline	Chr19:13286691	Conflicting classifications of pathogenicity	Condition: not provided SUDDEN INFANT DEATH SYNDROME Episodic ataxia type 2 Developmental and epileptic encephalopathy, 42	Criteria Provided Conflicting Classifications		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		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		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		rs_2148968418	2 SubmittersRCV001787417 RCV002463033
NM_001242896.3(DEPDC5):c.2105-1G>A	SNV Germline	Chr22:31833914	Likely pathogenic	SUDDEN INFANT DEATH SYNDROME	Criteria Provided Single Submitter		rs_781125997	1 SubmittersRCV001787420
NM_001743.6(CALM2):c.340G>A (p.Gly114Arg)	SNV Germline	Chr2:47161804	Pathogenic	SUDDEN INFANT DEATH SYNDROME	No Assertion Criteria Provided		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
Primary familial hypertrophic cardiomyopathy
Long QT syndrome
not specified
Condition: not provided
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Brugada syndrome
GPD1L-related disorder

Criteria Provided
Conflicting Classifications

CA213881

rs_72552293

18 SubmittersRCV000000824 RCV000029945 RCV000157243 RCV000170920 RCV000203752 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
Brugada syndrome
Progressive familial heart block, type 1A
Congenital long QT syndrome
Ventricular fibrillation, paroxysmal familial, type 1
Sick sinus syndrome 1
Dilated cardiomyopathy 1E
Cardiovascular phenotype
Long QT syndrome 3
Brugada syndrome 1
Cardiac arrhythmia
8 conditions
Primary dilated cardiomyopathy
Cardiomyopathy

Criteria Provided
Conflicting Classifications

CA017028

rs_7626962

22 SubmittersRCV000009993 RCV000009992 RCV000041615 RCV000058563 RCV000204216 RCV000304064 RCV000363449 RCV000368908 RCV000396768 RCV000274325 RCV000621429 RCV000755696 RCV001094834 RCV001841239 RCV002504776 RCV003125829 RCV003149567

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

SNV
Germline

Chr19:55151892

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA021957

rs_104894729

11 SubmittersRCV000013237 RCV000157534 RCV000159242 RCV000154212 RCV000619328 RCV000629012 RCV000852483 RCV003388566 RCV003147282

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

SNV
Germline

Chr19:55154146

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA021667

rs_104894724

19 SubmittersRCV000013239 RCV000159222 RCV000498333 RCV001170617 RCV004549357 RCV001254730 RCV004795401 RCV001787387

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
Cardiomyopathy
Primary familial hypertrophic cardiomyopathy
Left ventricular noncompaction 10
Primary dilated cardiomyopathy
Hypertrophic cardiomyopathy 4
SUDDEN INFANT DEATH SYNDROME
MYBPC3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA015883

rs_397516073

25 SubmittersRCV000158313 RCV000168401 RCV000249601 RCV001176299 RCV000845451 RCV002288533 RCV001375643 RCV001807754 RCV001787823 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

4 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 1
Jervell and Lange-Nielsen syndrome 1
Long QT syndrome
Short QT syndrome type 2
Atrial fibrillation, familial, 3
Cardiac arrhythmia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA008353

rs_199472728

10 SubmittersRCV000057771 RCV000148546 RCV000182121 RCV000219577 RCV001102797 RCV001108026 RCV001080930 RCV001108024 RCV001108025 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.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
Brugada syndrome
SUDDEN INFANT DEATH 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

Criteria Provided
Conflicting Classifications

CA016710

rs_137854609

15 SubmittersRCV000058541 RCV000171570 RCV000766794 RCV001145179 RCV001145180 RCV001145181 RCV001147136 RCV001145182 RCV001842324 RCV003149712 RCV004019046

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

SNV
Germline

Chr3:38551477

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA018735

rs_199473286

11 SubmittersRCV000058723 RCV000519341 RCV001258072 RCV001787861 RCV001530198 RCV002336214 RCV003450919 RCV003591672 RCV003996546

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_001267550.2(TTN):c.64898G>A (p.Arg21633Gln)

SNV
Germline

Chr2:178584743

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA310295

rs_141965360

7 SubmittersRCV000619156 RCV000714068 RCV001328439 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

8 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
Andersen Tawil syndrome
Short QT syndrome type 3
SUDDEN INFANT DEATH SYNDROME
Andersen Tawil syndrome
Atrial fibrillation, familial, 9
Short QT syndrome type 3
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
not specified
Primary dilated cardiomyopathy
SUDDEN INFANT DEATH SYNDROME
Cardiovascular phenotype
Long QT syndrome 5

Criteria Provided
Conflicting Classifications

CA16043161

rs_747321794

7 SubmittersRCV000414735 RCV000539512 RCV001002520 RCV000852543 RCV001788209 RCV003372698 RCV004777659

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

SNV
Germline

Chr2:166009835

Conflicting classifications of pathogenicity

Early infantile epileptic encephalopathy with suppression bursts
SUDDEN INFANT DEATH SYNDROME

Criteria Provided
Conflicting Classifications

CA349053526

rs_375896308