ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.5309G>A (p.Arg1770Lys)

dbSNP: rs1558048332
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703094 SCV000831976 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2018-12-04 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 (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. This variant has not been reported in the literature in individuals with CACNA1S-related conditions. ClinVar contains an entry for this variant (Variation ID: 579733). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with lysine at codon 1770 of the CACNA1S protein (p.Arg1770Lys). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and lysine.

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