ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.168C>G (p.Ile56Met)

dbSNP: rs763760402
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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 RCV001871267 SCV002156452 uncertain significance Long QT syndrome 2021-04-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 56 of the CACNA1C protein (p.Ile56Met). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and methionine. 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 has not been reported in the literature in individuals with CACNA1C-related conditions. This variant is not present in population databases (ExAC no frequency).

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