ClinVar Miner

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

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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 1; Malignant hyperthermia susceptibility type 5 2018-12-03 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another pathogenic CACNA1S variant in an individual affected with congenital myopathy (Invitae). 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. Loss-of-function variants in CACNA1S are known to be pathogenic (PMID: 26247046, 28012042). For these reasons, this variant has been classified as Pathogenic.

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