Submissions for variant NM_001127222.2(CACNA1A):c.1593C>T (p.Ser531=)

gnomAD frequency: 0.00006  dbSNP: rs372090886

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000606291	SCV000721551	likely benign	not provided	2021-09-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317355	SCV000849739	likely benign	Inborn genetic diseases	2017-05-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV000921507	SCV001066911	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003985390	SCV004775125	likely benign	CACNA1A-related disorder	2019-07-12	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).