ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1099G>A (p.Asp367Asn)

dbSNP: rs1010239242
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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 RCV002048866 SCV002309392 uncertain significance Long QT syndrome 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 367 of the CACNA1C protein (p.Asp367Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions. 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: "Deleterious"; PolyPhen-2: "Possibly 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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