Submissions for variant NM_000719.7(CACNA1C):c.1674G>A (p.Thr558=)

gnomAD frequency: 0.00004  dbSNP: rs781180544

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000435954	SCV000512448	benign	not specified	2015-04-07	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001443454	SCV001646425	likely benign	Long QT syndrome	2023-12-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002402121	SCV002712771	likely benign	Cardiovascular phenotype	2019-06-06	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	RCV003897843	SCV004709374	likely benign	CACNA1C-related disorder	2023-01-05	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).