ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12766G>T (p.Glu4256Ter)

dbSNP: rs770517037
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001933247 SCV002187876 pathogenic RYR1-related disorder 2021-04-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu4256*) 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 (rs770517037, ExAC 0.3%). This variant has not been reported in the literature in individuals with RYR1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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