ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11159_11162dup (p.Tyr3722fs)

dbSNP: rs2145736348
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001905697 SCV002156039 pathogenic RYR1-related disorder 2021-02-04 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 RYR1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr3722Profs*7) in the RYR1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RYR1 are known to be pathogenic (PMID: 20583297, 20839240, 23919265, 28818389).
All of Us Research Program, National Institutes of Health RCV004010770 SCV004842621 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV004591615 SCV005080392 likely pathogenic not provided 2024-07-08 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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