Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Institute of Human Genetics, |
RCV000408530 | SCV000281850 | likely pathogenic | Stargardt disease 1 | 2016-01-01 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000490201 | SCV000577641 | likely pathogenic | not provided | 2015-08-20 | criteria provided, single submitter | clinical testing | The P870L variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The P870L variant 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 P870L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some 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. A missense variant in this residue and missense variant in nearby residues (P870S, P862L, G863A, F873L) have been reported in the Human Gene Mutation Database in association with ABCA4-related disorders (Stenson et al., 2014). Therefore, this variant is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded. |
| Blueprint Genetics | RCV001074708 | SCV001240301 | likely pathogenic | Retinal dystrophy | 2019-04-03 | criteria provided, single submitter | clinical testing |