ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9345del (p.Ser3116fs)

dbSNP: rs2145663047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003591922 SCV004369382 pathogenic RYR1-related disorder 2023-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser3116Argfs*7) 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 variant has not been reported in the literature in individuals affected with RYR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1702862). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Goettingen RCV002279180 SCV002567745 likely pathogenic Central core myopathy 2022-08-24 no assertion criteria provided clinical testing

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