Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
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, |
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, |
RCV002287896 | SCV002578232 | pathogenic | Distal myopathy with anterior tibial onset | no assertion criteria provided | clinical testing |