Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000287557 | SCV000330777 | pathogenic | not provided | 2016-09-09 | criteria provided, single submitter | clinical testing | The G891D pathogenic variant in the COL4A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This 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 G891D 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 Glycine position within a Gly-X-Y repeat of a triple helical region of the protein that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G891D as a pathogenic variant. |