ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.838C>T (p.Arg280Ter)

gnomAD frequency: 0.00001  dbSNP: rs1278804520
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000760976 SCV000890881 pathogenic Central core myopathy 2017-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003757205 SCV004525384 pathogenic RYR1-related disorder 2023-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg280*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with RYR1-related conditions (PMID: 29556213). ClinVar contains an entry for this variant (Variation ID: 620584). For these reasons, this variant has been classified as Pathogenic.

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