ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser) (rs552478740)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697996 SCV000826634 uncertain significance Long QT syndrome 2019-06-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 2001 of the CACNA1C protein (p.Gly2001Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs552478740, ExAC 0.02%). This variant has not been reported in the literature in individuals with CACNA1C-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Fulgent Genetics,Fulgent Genetics RCV000763838 SCV000894760 uncertain significance Timothy syndrome; Brugada syndrome 3 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994777 SCV001148542 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing

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