ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3368G>A (p.Arg1123His) (rs745853358)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000386379 SCV000377826 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294202 SCV000377827 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001243195 SCV001416335 uncertain significance Long QT syndrome 2019-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1123 of the CACNA1C protein (p.Arg1123His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs745853358, ExAC 0.02%). This variant has not been reported in the literature in individuals with CACNA1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 308144). 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: "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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