Submissions for variant NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=)

gnomAD frequency: 0.00063  dbSNP: rs200330469

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723668	SCV000111147	uncertain significance	not provided	2013-08-08	criteria provided, single submitter	clinical testing
Invitae	RCV001082734	SCV000285585	benign	Long QT syndrome	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000250456	SCV000320376	likely benign	Cardiovascular phenotype	2015-11-16	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.
GeneDx	RCV000079277	SCV000515665	benign	not specified	2015-04-13	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.
PreventionGenetics, part of Exact Sciences	RCV003925043	SCV004745883	likely benign	CACNA1C-related disorder	2019-04-10	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).
CeGaT Center for Human Genetics Tuebingen	RCV000723668	SCV005092988	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CACNA1C: BP4, BP7, BS1