ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met)

gnomAD frequency: 0.00020  dbSNP: rs768129470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516347 SCV000612571 uncertain significance not provided 2019-07-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000516347 SCV001151684 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing CACNA1A: PP3, BS1
Ambry Genetics RCV002527459 SCV003687565 likely benign Inborn genetic diseases 2021-10-01 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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