ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln)

dbSNP: rs113812219
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001978602 SCV002280966 benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2023-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497977 SCV002812242 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2021-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002592635 SCV003552391 uncertain significance Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing The c.1778G>A (p.R593Q) alteration is located in exon 12 (coding exon 12) of the CACNA1S gene. This alteration results from a G to A substitution at nucleotide position 1778, causing the arginine (R) at amino acid position 593 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004011081 SCV004822885 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-12-07 criteria provided, single submitter clinical testing This missense variant replaces arginine with glutamine at codon 593 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 5/282904 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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