ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2796C>A (p.His932Gln)

dbSNP: rs772941423
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985520 SCV002038539 uncertain significance CACNA1A-related disorder 2021-05-11 criteria provided, single submitter clinical testing The CACNA1A c.2799C>A (p.His933Gln) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.His933Gln variant is reported at a frequency of 0.000096 in the African/African American population from the Genome Aggregation Database (version 2.1.1), though this is based on one allele only in a region of good sequence coverage so the variant is presumed to be rare. Based on the limited evidence, the p.His933Gln variant is classified as a variant of uncertain significance for CACNA1A-related disorders.

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