ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6331G>A (p.Glu2111Lys)

gnomAD frequency: 0.00001  dbSNP: rs1237228580
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001981163 SCV002280192 uncertain significance Long QT syndrome 2022-07-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1492705). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 2111 of the CACNA1C protein (p.Glu2111Lys). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CACNA1C-related conditions.
Ambry Genetics RCV004603131 SCV005099623 likely benign Cardiovascular phenotype 2024-05-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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