ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) (rs545511851)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000395385 SCV000377809 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000337286 SCV000805173 uncertain significance Timothy syndrome 2018-05-08 criteria provided, single submitter clinical testing
Invitae RCV000808464 SCV000948573 uncertain significance Long QT syndrome 2018-11-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 813 of the CACNA1C protein (p.Gly813Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs545511851, ExAC 0.01%). This variant has not been reported in the literature in individuals with CACNA1C-related disease. ClinVar contains an entry for this variant (Variation ID: 308139). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994771 SCV001148525 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing

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