ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.825C>T (p.Ala275=)

gnomAD frequency: 0.00014  dbSNP: rs193196995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842687 SCV000984717 likely benign not provided 2018-05-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000842687 SCV001069234 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449721 SCV001652980 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ala275Ala in exon 6 of CACNA1D: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2.6% (5/194) of Luhya (Kenyan) chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs193196995).

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