ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.1348G>T (p.Ala450Ser)

gnomAD frequency: 0.00085  dbSNP: rs35606457
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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 RCV002111880 SCV002399806 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002111880 SCV005282395 benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004965765 SCV005552699 likely benign Inborn genetic diseases 2024-08-11 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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