ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)

dbSNP: rs886041380
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000266687 SCV000329915 pathogenic not provided 2021-11-22 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 (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23919265, 22473935, 31589614)
Invitae RCV001385846 SCV001585840 pathogenic RYR1-related disorder 2023-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser2270Leufs*13) 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 (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with autosomal recessive RYR1-related myopathy (PMID: 22473935). ClinVar contains an entry for this variant (Variation ID: 280096). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000266687 SCV002019928 pathogenic not provided 2021-09-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503974 SCV002804750 pathogenic Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-09-23 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV004546473 SCV005042687 pathogenic Congenital multicore myopathy with external ophthalmoplegia criteria provided, single submitter clinical testing

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