ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2512G>A (p.Gly838Arg)

gnomAD frequency: 0.00001  dbSNP: rs1356510559
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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 RCV001294279 SCV001483151 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2024-08-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003517323 SCV004360366 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-06-26 criteria provided, single submitter clinical testing This missense variant replaces glycine with arginine at codon 838 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 2/282852 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.
All of Us Research Program, National Institutes of Health RCV003517323 SCV004821963 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-09-05 criteria provided, single submitter clinical testing

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