ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.11320del (p.Ala3774fs)

dbSNP: rs768698639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721229 SCV000852245 likely pathogenic not provided 2013-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000808821 SCV000948943 pathogenic RYR1-related disorder 2022-07-05 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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.Ala3774Argfs*8) 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). ClinVar contains an entry for this variant (Variation ID: 590381). For these reasons, this variant has been classified as Pathogenic.

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