Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522816 | SCV000618783 | uncertain significance | not provided | 2017-06-29 | criteria provided, single submitter | clinical testing | The V532M variant in the DOCK2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 29/10406 (0.27%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016). The V532M 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 where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on currently available evidence, we interpret V532M as a variant of uncertain significance. |
Invitae | RCV001085156 | SCV000656390 | likely benign | DOCK2 deficiency | 2023-12-13 | criteria provided, single submitter | clinical testing |