Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480923 | SCV000570305 | likely pathogenic | not provided | 2016-05-10 | criteria provided, single submitter | clinical testing | The G83D variant in the HNRNPK gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G83D 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 G83D 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 inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The G83D variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded. |
Ambry Genetics | RCV001266115 | SCV001444287 | likely pathogenic | Inborn genetic diseases | 2018-07-13 | criteria provided, single submitter | clinical testing |