ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)

dbSNP: rs2092204417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207233 SCV001378577 pathogenic Qualitative or quantitative defects of dysferlin 2022-02-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr838*) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 938081). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is not present in population databases (gnomAD no frequency).
Myriad Genetics, Inc. RCV001263672 SCV001441764 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2020-02-29 criteria provided, single submitter clinical testing
GeneDx RCV001776143 SCV002012706 pathogenic not provided 2021-11-18 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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