ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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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