Submissions for variant NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=)

gnomAD frequency: 0.00016  dbSNP: rs368033271

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000518375	SCV000612510	benign	not specified	2016-08-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000951683	SCV000717769	benign	not provided	2019-06-07	criteria provided, single submitter	clinical testing
Invitae	RCV001087183	SCV001098106	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000951683	SCV001151661	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	CACNA1A: BP4, BP7
Ambry Genetics	RCV002420296	SCV002717531	likely benign	Inborn genetic diseases	2017-09-28	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.
Fulgent Genetics, Fulgent Genetics	RCV002481662	SCV002802293	likely benign	Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42	2021-08-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003985370	SCV004739898	likely benign	CACNA1A-related disorder	2020-03-05	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).