ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4860dup (p.Val1621fs)

dbSNP: rs761214441
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001909759 SCV002186900 pathogenic Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2021-05-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CACNA1S-related conditions. This variant is present in population databases (rs775883314, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Val1621Argfs*12) in the CACNA1S gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CACNA1S are known to be pathogenic (PMID: 26247046, 28012042).
Revvity Omics, Revvity RCV003487285 SCV003828843 uncertain significance not provided 2021-10-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010845 SCV004815887 uncertain significance Malignant hyperthermia, susceptibility to, 5 2023-02-24 criteria provided, single submitter clinical testing This pathogenicity assessment is for autosomal dominant malignant hyperthermia susceptibility phenotype. This frameshift variant is predicted to result in an absent or nonfunctional CACNA1S protein product. Loss of CACNA1S gene function due to truncation and splice variants is thought to cause congenital myopathy and hypokalemic periodic paralysis (PMID: 28012042, 34608571, 34777470). However, the role of such loss-of-function variants in autosomal dominant malignant hyperthermia susceptibility is not clearly understood. Therefore, this variant is classified as a Variant of Uncertain Significance.

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