ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.325G>A (p.Gly109Ser)

gnomAD frequency: 0.00003  dbSNP: rs764602257
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795463 SCV000934927 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2018-10-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 109 of the CACNA1S protein (p.Gly109Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs764602257, ExAC 0.02%). This variant has not been reported in the literature in individuals with CACNA1S-related disease. 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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