ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10960del (p.Leu3654fs)

dbSNP: rs1971589827
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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 RCV001048501 SCV001212512 pathogenic RYR1-related disorder 2019-03-04 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu3654Trpfs*10) in the RYR1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with RYR1-related conditions. Loss-of-function variants in RYR1 are known to be pathogenic (PMID: 20583297, 20839240, 23919265, 28818389). For these reasons, this variant has been classified as Pathogenic.

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