ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) (rs201998231)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599312 SCV000710475 likely pathogenic not provided 2018-01-30 criteria provided, single submitter clinical testing The R168X variant in the CACNA1S gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R168X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R168X as a likely pathogenic variant.
Invitae RCV000699379 SCV000828085 pathogenic Hypokalemic periodic paralysis 1; Malignant hyperthermia susceptibility type 5 2018-05-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg168*) 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 not been reported in the literature in individuals with CACNA1S-related disease. 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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