Submissions for variant NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser)

gnomAD frequency: 0.00047  dbSNP: rs151090729

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000466946	SCV000558487	benign	Brugada syndrome	2024-11-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000613459	SCV000730433	benign	not specified	2017-11-28	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	RCV000987249	SCV001136499	likely benign	Brugada syndrome 1	2019-05-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002341091	SCV002644022	likely benign	Cardiovascular phenotype	2019-04-16	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.
Fulgent Genetics, Fulgent Genetics	RCV002496819	SCV002811878	likely benign	Episodic pain syndrome, familial, 2	2021-07-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003431025	SCV004154202	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SCN10A: PP3, BS1, BS2
NIHR Bioresource Rare Diseases, University of Cambridge	RCV002254167	SCV001162080	likely pathogenic	Impaired temperature sensation		no assertion criteria provided	research