Submissions for variant NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln)

gnomAD frequency: 0.00024  dbSNP: rs373335068

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000170777	SCV000223332	uncertain significance	not provided	2020-02-17	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Identified in conjunction with additional variants in individuals referred for cardiac genetic testing at GeneDx; segregation data are limited at this time; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 190639; Landrum et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32233023)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000631680	SCV000752763	likely benign	Long QT syndrome	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002390405	SCV002702626	benign	Cardiovascular phenotype	2022-01-10	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.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000656158	SCV000678352	uncertain significance	Wolff-Parkinson-White pattern	2017-07-14	no assertion criteria provided	research	This variant was identified in an individual with Wolff-Parkinson-White syndrome