ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr)

gnomAD frequency: 0.00006  dbSNP: rs144590408
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001035245 SCV001198566 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-11-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479165 SCV002783624 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-04-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004424 SCV004825583 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-12-01 criteria provided, single submitter clinical testing This missense variant replaces methionine with threonine at codon 635 of the CACNA1S protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with CACNA1S-related disorders in the literature. This variant has been identified in 18/282860 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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