Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001325082 | SCV001516059 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1765 of the DYSF protein (p.Val1765Met). This variant is not present in population databases (gnomAD no frequency). 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: 1024849). 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. 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. |
Ambry Genetics | RCV002546124 | SCV003626090 | uncertain significance | Inborn genetic diseases | 2022-06-29 | criteria provided, single submitter | clinical testing | The c.5293G>A (p.V1765M) alteration is located in exon 47 (coding exon 47) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 5293, causing the valine (V) at amino acid position 1765 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001830998 | SCV002080321 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2021-06-29 | no assertion criteria provided | clinical testing |