Submissions for variant NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp)

gnomAD frequency: 0.00003  dbSNP: rs760888275

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000170838	SCV000223393	uncertain significance	not provided	2024-01-08	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Illumina Laboratory Services, Illumina	RCV000289278	SCV000377784	uncertain significance	Timothy syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000346531	SCV000377785	uncertain significance	Brugada syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618192	SCV000738082	likely benign	Cardiovascular phenotype	2019-11-27	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084353	SCV001008076	likely benign	Long QT syndrome	2025-02-02	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000170838	SCV001716111	uncertain significance	not provided	2022-10-04	criteria provided, single submitter	clinical testing	BS1, PP2