ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.86G>A (p.Arg29Gln)

gnomAD frequency: 0.00004  dbSNP: rs758594181
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813617 SCV000953984 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-11-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001752 SCV004829402 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-11-20 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 29 of the CACNA1S protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, 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 10/282800 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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