ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.6325G>C (p.Ala2109Pro)

gnomAD frequency: 0.00016  dbSNP: rs201622587
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002094646 SCV002387907 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045749 SCV004915918 likely benign Inborn genetic diseases 2023-10-06 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 RCV002094646 SCV005042055 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing CACNA1E: BS1

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