ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4173G>A (p.Trp1391Ter)

dbSNP: rs761239255
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001981869 SCV002213517 pathogenic Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2021-05-13 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 (rs761239255, ExAC 0.006%). This sequence change creates a premature translational stop signal (p.Trp1391*) 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).

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