ClinVar Miner

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

gnomAD frequency: 0.00016  dbSNP: rs368033271
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Total submissions: 7
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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
Labcorp Genetics (formerly Invitae), Labcorp 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 2024-08-01 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 no assertion criteria provided 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).

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