ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1265G>A (p.Arg422His)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002780742 SCV003019720 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-12-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481333 SCV004224765 uncertain significance not provided 2023-02-14 criteria provided, single submitter clinical testing PP3
All of Us Research Program, National Institutes of Health RCV004007600 SCV004828875 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-12-01 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 422 of the CACNA1S protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 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 16/282890 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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