ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5563del (p.Ile1855fs)

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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 RCV003039753 SCV003339184 pathogenic Qualitative or quantitative defects of dysferlin 2022-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1816Leufs*8) 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. 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).

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