ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4471G>T (p.Val1491Phe)

dbSNP: rs1211294190
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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 RCV003985519 SCV002034816 uncertain significance CACNA1A-related disorder 2021-07-30 criteria provided, single submitter clinical testing The CACNA1A c.4471G>T (p.Val1491Phe) variant, also referred to as p.Val1492Phe or p.Val1495Phe based on other transcript isoforms, 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. This variant is not found in the Genome Aggregation Database (version 2.1.1 and version 3.1.1) in a region of good sequence coverage, so the variant is presumed to be rare. Multiple in silico prediction tools suggest that this variant has a deleterious impact on the protein; however, no experimental evidence is available. This variant is located in the S6 transmembrane pore region of domain III in which multiple pathogenic variants have been reported (Guida et al. 2001; Riant et al. 2010; Bahamonde et al. 2015). Based on the collective evidence, the p.Val1491Phe variant is classified as a variant of uncertain significance for CACNA1A-related disorders.

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