ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1739_1742dup (p.His581fs)

dbSNP: rs193922771
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000119584 SCV000568771 pathogenic not provided 2024-07-09 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); This variant is associated with the following publications: (PMID: 18253926)
Labcorp Genetics (formerly Invitae), Labcorp RCV003591631 SCV004297326 pathogenic RYR1-related disorder 2023-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His581Glnfs*30) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive congenital myopathy (PMID: 18253926). This variant is also known as p.His581GlnfsX29. ClinVar contains an entry for this variant (Variation ID: 12994). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013867 SCV000034114 pathogenic Congenital multicore myopathy with external ophthalmoplegia 2008-05-01 no assertion criteria provided literature only
Leiden Muscular Dystrophy (RYR1) RCV000119584 SCV000154491 not provided not provided no assertion provided not provided

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