Submissions for variant NM_006514.4(SCN10A):c.5657C>T (p.Ala1886Val)

gnomAD frequency: 0.00318  dbSNP: rs142653846

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000554968	SCV000637039	benign	Brugada syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000591685	SCV000700605	benign	not specified	2013-07-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000591685	SCV000730432	benign	not specified	2017-10-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics	RCV000987247	SCV001136497	likely benign	Brugada syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345396	SCV002651855	benign	Cardiovascular phenotype	2019-05-22	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV004542789	SCV004776743	likely benign	SCN10A-related disorder	2019-08-14	criteria provided, single submitter	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).