ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His)

dbSNP: rs2144595024
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771288 SCV002002480 uncertain significance not provided 2024-02-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
PreventionGenetics, part of Exact Sciences RCV003985517 SCV004718291 likely pathogenic CACNA1A-related disorder 2024-01-08 no assertion criteria provided clinical testing The CACNA1A c.5702G>A variant is predicted to result in the amino acid substitution p.Arg1901His. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.

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