ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.182A>C (p.Gln61Pro)

dbSNP: rs2083416747
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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 RCV001237215 SCV001409966 uncertain significance Long QT syndrome 2019-07-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CACNA1C-related conditions. 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. 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"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with proline at codon 61 of the CACNA1C protein (p.Gln61Pro). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and proline.

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