Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000419456 | SCV000528033 | uncertain significance | not provided | 2017-08-15 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the ADSL gene. The H91Y variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 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 H91Y 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. Additionally, missense variants in nearby residues (D87E and P100A) have been reported in Human Gene Mutation Database in association with ADSL deficiency (Stenson et al., 2014), supporting the functional importance of this region of the protein. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Fulgent Genetics, |
RCV000764386 | SCV000895439 | uncertain significance | Adenylosuccinate lyase deficiency | 2018-10-31 | criteria provided, single submitter | clinical testing |