ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1951C>T (p.Arg651Ter)

gnomAD frequency: 0.00001  dbSNP: rs754522209
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001291605 SCV001480158 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859231 SCV002119358 pathogenic RYR1-related disorder 2023-06-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg651*) 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: 23919265, 25960145, 28818389, 30611313). This variant is present in population databases (rs754522209, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with RYR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 996809). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001859231 SCV002505547 likely pathogenic RYR1-related disorder 2023-07-26 criteria provided, single submitter clinical testing Criteria applied: PVS1, PM2_SUP

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