ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.1156A>G (p.Thr386Ala)

dbSNP: rs2130949881
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002019300 SCV002282263 uncertain significance Brugada syndrome 2021-09-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CACNA2D1-related conditions. This sequence change replaces threonine with alanine at codon 386 of the CACNA2D1 protein (p.Thr386Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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