ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter)

dbSNP: rs1572035834
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797345 SCV000936898 pathogenic Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 2020-04-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CACNA1S are known to be pathogenic (PMID: 26247046, 28012042). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in an individual with autosomal recessive congenital myopathy (Invitae). This variant has also been observed in an individual with unspecified myopathy or muscular dystrophy (PMID: 29792937). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp990*) in the CACNA1S gene. It is expected to result in an absent or disrupted protein product.

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