Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000553292 | SCV000644183 | uncertain significance | Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 2022-08-10 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 467826). This missense change has been observed in individual(s) with autosomal recessive inherited retinal dystrophy (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 72 of the RPE65 protein (p.Phe72Ser). |
| Blueprint Genetics | RCV002287424 | SCV002576580 | likely pathogenic | Leber congenital amaurosis 2 | 2017-10-01 | criteria provided, single submitter | clinical testing | Variant is absent in gnomAD, predicted deleterious by most in silico tools utilized, and the amino acid is conserved in mammals. |