ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs)

dbSNP: rs769873428
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730868 SCV000858635 pathogenic not provided 2017-12-15 criteria provided, single submitter clinical testing
Invitae RCV001388827 SCV001589977 pathogenic Qualitative or quantitative defects of dysferlin 2023-04-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 595345). 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 present in population databases (rs769873428, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Leu1774Profs*54) 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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987685 SCV004803269 pathogenic Autosomal recessive limb-girdle muscular dystrophy 2024-01-12 criteria provided, single submitter clinical testing Variant summary: DYSF c.5320dupC (p.Leu1774ProfsX54) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant allele was found at a frequency of 4e-06 in 251100 control chromosomes (gnomAD). c.5320dupC has been reported in the literature in an individual(s) affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive (e.g. Wang_2022). The following publication has been ascertained in the context of this evaluation (PMID: 36319958). ClinVar contains an entry for this variant (Variation ID: 595345). Based on the evidence outlined above, the variant was classified as pathogenic.
Neuropathology Laboratory of Hebei Province, The Second Hospital of Hebei Medical University RCV002287896 SCV002578232 pathogenic Distal myopathy with anterior tibial onset no assertion criteria provided clinical testing

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