ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1813A>T (p.Ile605Phe)

dbSNP: rs550246898
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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 RCV001223929 SCV001396100 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2019-04-20 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with CACNA1S-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with phenylalanine at codon 605 of the CACNA1S protein (p.Ile605Phe). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and phenylalanine.
All of Us Research Program, National Institutes of Health RCV004004801 SCV004818679 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-03-28 criteria provided, single submitter clinical testing

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