Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000711569 | SCV000331137 | pathogenic | not provided | 2016-10-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000693273 | SCV000821135 | pathogenic | Qualitative or quantitative defects of dysferlin | 2024-01-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg204*) 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 (rs373585652, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with dysferlinopathies (PMID: 16010686, 18853459, 20544924, 21816046, 23243261, 25135358, 27647186). ClinVar contains an entry for this variant (Variation ID: 94352). For these reasons, this variant has been classified as Pathogenic. |
Athena Diagnostics Inc | RCV000711569 | SCV000841948 | pathogenic | not provided | 2018-03-28 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000711569 | SCV002021832 | pathogenic | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003114244 | SCV003800938 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy | 2023-01-19 | criteria provided, single submitter | clinical testing | Variant summary: DYSF c.610C>T (p.Arg204X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 8e-06 in 251480 control chromosomes (gnomAD). c.610C>T has been reported in the literature in multiple individuals affected with dysferlinopathy and autosomal recessive Limb-Girdle Muscular Dystrophy (e.g. Rosales_2010, Takahashi_2013, Harris_2016). These data indicate that the variant is very likely to be associated with disease. Six ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Baylor Genetics | RCV003474680 | SCV004194158 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-10-26 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000179424 | SCV000486601 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2016-11-02 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000179424 | SCV001457606 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-09-16 | no assertion criteria provided | clinical testing |