ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4051A>G (p.Thr1351Ala)

gnomAD frequency: 0.00002  dbSNP: rs1251857483
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685050 SCV000812522 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2018-03-13 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 1351 of the CACNA1S protein (p.Thr1351Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, 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. 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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