ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser) (rs80338779)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455686 SCV000538555 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Questionable quality, ACMG has recommended that only known pathogenic variants for MH be reported as incidental findings; Absent from ExAC with good coverage
Invitae RCV000822757 SCV000963573 pathogenic Hypokalemic periodic paralysis 1; Malignant hyperthermia, susceptibility to, 5 2018-09-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 897 of the CACNA1S protein (p.Arg897Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in individuals affected with hypokalemic periodic paralysis (PMID: 18835861, 22901280). ClinVar contains an entry for this variant (Variation ID: 17630). 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"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000019197 SCV000039485 pathogenic Hypokalemic periodic paralysis 1 2008-10-01 no assertion criteria provided literature only
GeneReviews RCV000019197 SCV000040408 pathologic Hypokalemic periodic paralysis 1 2009-04-28 no assertion criteria provided curation Converted during submission to Pathogenic.

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