ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg)

dbSNP: rs750835733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001856203 SCV002237899 pathogenic Long QT syndrome 2021-12-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CACNA1C function (PMID: 23677916). 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 633643). This missense change has been observed in individuals with long QT syndrome (PMID: 23677916, 32161207; Invitae). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs750835733, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 857 of the CACNA1C protein (p.Pro857Arg).
OMIM RCV000782177 SCV000920645 pathogenic Long qt syndrome 8 2019-06-05 no assertion criteria provided literature only

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