ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs)

dbSNP: rs779407815
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800396 SCV000940109 pathogenic Qualitative or quantitative defects of dysferlin 2024-10-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1269Glyfs*7) 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). This variant is present in population databases (rs779407815, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with distal myopathy (PMID: 29997562). ClinVar contains an entry for this variant (Variation ID: 646166). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics RCV001289421 SCV001477223 likely pathogenic not provided 2019-09-24 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity.
Revvity Omics, Revvity RCV001289421 SCV002021830 pathogenic not provided 2020-07-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003461123 SCV004196534 pathogenic Miyoshi muscular dystrophy 1 2023-05-09 criteria provided, single submitter clinical testing

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