Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000726938 | SCV000536484 | uncertain significance | not provided | 2023-08-08 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Eurofins Ntd Llc |
RCV000726938 | SCV000704314 | uncertain significance | not provided | 2016-12-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001242148 | SCV001415216 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2022-10-19 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 1285 of the DYSF protein (p.His1285Tyr). This variant is present in population databases (rs202061751, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 393119). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DYSF protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Revvity Omics, |
RCV000726938 | SCV003831329 | uncertain significance | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276451 | SCV001462799 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-09-16 | no assertion criteria provided | clinical testing |