ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys)

gnomAD frequency: 0.00004  dbSNP: rs373328930
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820892 SCV000961626 likely benign Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2022-08-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495172 SCV002790928 uncertain significance Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 2022-01-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002826 SCV004827041 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-05-16 criteria provided, single submitter clinical testing This missense variant replaces arginine with cysteine at codon 794 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 malignant hyperthermia in the literature. This variant has been identified in 9/161928 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.
Ambry Genetics RCV004029052 SCV004915026 uncertain significance Inborn genetic diseases 2024-01-29 criteria provided, single submitter clinical testing The c.2380C>T (p.R794C) alteration is located in exon 18 (coding exon 18) of the CACNA1S gene. This alteration results from a C to T substitution at nucleotide position 2380, causing the arginine (R) at amino acid position 794 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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