ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1335C>T (p.His445=)

gnomAD frequency: 0.00048  dbSNP: rs368045716
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV004782329 SCV006068445 likely benign not specified 2025-04-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782329 SCV005394083 benign not specified 2024-09-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486797 SCV004239649 benign Cardiomyopathy 2023-01-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500952 SCV002806265 likely benign Brugada syndrome 1; Long QT syndrome 3; Sick sinus syndrome 1; Progressive familial heart block, type 1A; Ventricular fibrillation, paroxysmal familial, type 1; Dilated cardiomyopathy 1E; SUDDEN INFANT DEATH SYNDROME; Atrial fibrillation, familial, 10 2022-02-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001843030 SCV001358215 benign Cardiac arrhythmia 2018-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000426116 SCV000557115 benign not provided 2025-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000426116 SCV000514538 likely benign not provided 2021-06-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26582918, 27535533)
Ambry Genetics RCV000242867 SCV000319865 likely benign Cardiovascular phenotype 2015-06-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004734903 SCV005344718 likely benign SCN5A-related disorder 2024-09-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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