Submissions for variant NM_006514.4(SCN10A):c.179G>A (p.Cys60Tyr)

gnomAD frequency: 0.00031  dbSNP: rs145900411

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000983846	SCV001131881	likely benign	Brugada syndrome	2025-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001664586	SCV001872954	uncertain significance	not provided	2024-08-13	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
Ambry Genetics	RCV002409311	SCV002716922	likely benign	Cardiovascular phenotype	2019-10-23	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.
Mayo Clinic Laboratories, Mayo Clinic	RCV001664586	SCV004226086	uncertain significance	not provided	2022-08-03	criteria provided, single submitter	clinical testing	BS2
PreventionGenetics, part of Exact Sciences	RCV004536005	SCV004723418	likely benign	SCN10A-related disorder	2023-12-18	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).