Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000419357 | SCV000535341 | likely pathogenic | not provided | 2018-07-17 | criteria provided, single submitter | clinical testing | The D92A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D92A 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 D92A 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, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, we interpret D92A to be likely pathogenic; however, the possibility that it is benign cannot be excluded. |
Eurofins Ntd Llc |
RCV000419357 | SCV000704816 | uncertain significance | not provided | 2016-12-22 | criteria provided, single submitter | clinical testing |