ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys)

gnomAD frequency: 0.00010  dbSNP: rs202002033
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722411 SCV000577294 likely benign not provided 2020-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314845 SCV000848371 likely benign Inborn genetic diseases 2016-11-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000973841 SCV001121625 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506190 SCV002808359 likely benign Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2022-01-10 criteria provided, single submitter clinical testing

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