Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494081 | SCV000583032 | likely pathogenic | not provided | 2015-12-08 | criteria provided, single submitter | clinical testing | The D308Y variant in the PEX7 gene has been reported previously in a research abstract as compound heterozygous with a pathogenic splice site variant in one individual with rhizomelic chondrodysplasia punctata type I (Onay et al., 2013). The D308Y 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 D308Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, the D308Y variant is a strong candidate for a pathogenic variant. |