Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000435855 | SCV000535712 | uncertain significance | not provided | 2017-01-18 | criteria provided, single submitter | clinical testing | The G498V variant in the DYSF gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G498V variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G498V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret G498V as a variant of uncertain significance. |
Natera, |
RCV001833569 | SCV002079811 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2019-11-11 | no assertion criteria provided | clinical testing |