Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179859 | SCV000232176 | likely pathogenic | not provided | 2015-06-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001852238 | SCV002231915 | pathogenic | Qualitative or quantitative defects of dysferlin | 2024-01-18 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 234 of the DYSF protein (p.Gly234Glu). This variant is present in population databases (rs141497053, gnomAD 0.01%). This missense change has been observed in individual(s) with DYSF-related conditions (PMID: 17070050, 18853459, 33610434). ClinVar contains an entry for this variant (Variation ID: 198495). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DYSF protein function. For these reasons, this variant has been classified as Pathogenic. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002265663 | SCV002548270 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy | 2022-05-18 | criteria provided, single submitter | clinical testing | Variant summary: DYSF c.701G>A (p.Gly234Glu) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 3.6e-05 in 251458 control chromosomes. c.701G>A has been reported in the literature in individuals affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive. These data indicate that the variant is likely to be associated with disease. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (Pathogenic n=1, likely pathogenic n=1, VUS n=1). Based on the evidence outlined above, the variant was classified as pathogenic. |
Revvity Omics, |
RCV000179859 | SCV003831991 | likely pathogenic | not provided | 2022-03-24 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003468872 | SCV004194200 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-09-26 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000984257 | SCV001132381 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2016-12-28 | no assertion criteria provided | clinical testing |