Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001925072 | SCV002174842 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-10-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile1401Serfs*47) 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 (rs761906044, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 17698709, 26088049, 30107846). ClinVar contains an entry for this variant (Variation ID: 1402261). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003464217 | SCV004194234 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-08-10 | criteria provided, single submitter | clinical testing | |
| Ce |
RCV003886531 | SCV004703570 | pathogenic | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | DYSF: PVS1, PM3:Strong, PM2 |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004690166 | SCV005185417 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy | 2024-05-07 | criteria provided, single submitter | clinical testing | Variant summary: DYSF c.4200delC (p.Ile1401SerfsX47) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.6e-05 in 250638 control chromosomes (gnomAD). c.4200delC has been reported in the literature in individuals affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive (e.g. Yu_2017, Zhong_2021). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 28403181, 34559919). ClinVar contains an entry for this variant (Variation ID: 1402261). Based on the evidence outlined above, the variant was classified as pathogenic. |