ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.1385G>A (p.Arg462Gln)

gnomAD frequency: 0.00014  dbSNP: rs35057005
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001969850 SCV002226241 likely benign not provided 2024-10-21 criteria provided, single submitter clinical testing
GeneDx RCV001969850 SCV002586890 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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