ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys) (rs199473391)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475353 SCV000553021 uncertain significance Long QT syndrome 2019-09-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1115 of the CACNA1C protein (p.Glu1115Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with Brugada syndrome and individuals with long QT syndrome (LQTS) (PMID: 20817017, 30662450, 30172029, Invitae). ClinVar contains an entry for this variant (Variation ID: 67554). This variant has been reported to affect CACNA1C protein function (PMID: 30172029). 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.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058287 SCV000089807 not provided Brugada syndrome no assertion provided literature only This variant has been reported as associated with Brugada syndrome in the following publications (PMID:20817017). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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