ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.4674dup (p.Asn1559fs)

gnomAD frequency: 0.00002  dbSNP: rs759632485
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001967613 SCV002214665 pathogenic RYR1-related disorder 2024-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn1559Glufs*6) 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 (rs759632485, gnomAD 0.007%). 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: 1431756). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002484631 SCV002786155 likely pathogenic Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-12-28 criteria provided, single submitter clinical testing

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