ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5859G>A (p.Gly1953=)

gnomAD frequency: 0.00011  dbSNP: rs200625174
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289292 SCV001477020 benign not specified 2020-07-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001518294 SCV001726962 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354863 SCV002650286 likely benign Inborn genetic diseases 2018-03-13 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.
CeGaT Center for Human Genetics Tuebingen RCV003413763 SCV004137990 benign not provided 2022-08-01 criteria provided, single submitter clinical testing CACNA1A: BS1, BS2

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