ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6067G>A (p.Gly2023Ser)

gnomAD frequency: 0.00006  dbSNP: rs574805525
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000421580 SCV000528580 likely benign not provided 2020-04-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000653329 SCV000775208 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-10 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000421580 SCV001143341 likely benign not provided 2019-05-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521817 SCV003699585 likely benign Inborn genetic diseases 2021-07-20 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.

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