ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.177dup (p.Asp60fs)

dbSNP: rs756326114
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332534 SCV001524891 likely pathogenic Congenital multicore myopathy with external ophthalmoplegia 2019-02-14 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003106196 SCV003780575 pathogenic RYR1-related disorder 2021-12-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1030857). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with RYR1-related conditions. This sequence change creates a premature translational stop signal (p.Asp60Argfs*24) 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: 20583297, 20839240, 23919265, 28818389). This variant is present in population databases (rs756326114, gnomAD 0.004%).

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