Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790785 | SCV000228140 | pathogenic | not provided | 2017-03-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000807968 | SCV000948050 | pathogenic | Qualitative or quantitative defects of dysferlin | 2022-04-20 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 791 of the DYSF protein (p.Pro791Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with limb-girdle muscular dystrophy (PMID: 10196377, 16996541). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6671). 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 expected to disrupt DYSF protein function. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000007055 | SCV000027251 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 1999-05-01 | no assertion criteria provided | literature only | |
OMIM | RCV000007056 | SCV000809053 | pathogenic | Miyoshi muscular dystrophy 1 | 1999-05-01 | no assertion criteria provided | literature only |