ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.514C>A (p.Pro172Thr)

dbSNP: rs370041629
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001341586 SCV001535466 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2020-10-08 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 172 of the CACNA1S protein (p.Pro172Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant has not been reported in the literature in individuals with CACNA1S-related disease. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").
Gharavi Laboratory, Columbia University RCV000722549 SCV000853680 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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