ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6275G>C (p.Gly2092Ala) (rs755430543)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475012 SCV000553001 uncertain significance Long QT syndrome 2019-09-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 2092 of the CACNA1C protein (p.Gly2092Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CACNA1C-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000719946 SCV000850819 uncertain significance History of neurodevelopmental disorder 2017-01-30 criteria provided, single submitter clinical testing Insufficient evidence

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