ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn)

gnomAD frequency: 0.00010  dbSNP: rs141298868
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539694 SCV000660026 likely benign RYR1-related disorder 2024-12-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000721652 SCV000705063 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000721652 SCV000852775 uncertain significance not provided 2018-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000721652 SCV001768305 uncertain significance not provided 2025-03-12 criteria provided, single submitter clinical testing Previously reported as a variant of uncertain significance and identified with a second RYR1 variant in an individual with central core myopathy (PMID: 33458582); In silico analysis indicates that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33458582)
Revvity Omics, Revvity RCV000721652 SCV003814432 uncertain significance not provided 2023-05-29 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005398873 SCV006058561 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome 2023-09-26 criteria provided, single submitter research

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