Submissions for variant NM_001127222.2(CACNA1A):c.4926C>T (p.Thr1642=)

gnomAD frequency: 0.00031  dbSNP: rs16036

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000440354	SCV000529123	likely benign	not specified	2016-06-29	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	RCV000960809	SCV001107831	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2023-12-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002339059	SCV002641160	likely benign	Inborn genetic diseases	2018-01-26	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	RCV003985344	SCV004780011	likely benign	CACNA1A-related disorder	2019-08-20	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).