Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001048980 | SCV001213010 | uncertain significance | Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 2022-08-15 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 507 of the RPE65 protein (p.Ala507Ser). This variant is present in population databases (rs767931252, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with RPE65-related conditions. ClinVar contains an entry for this variant (Variation ID: 845835). 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"). 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. |
Ambry Genetics | RCV002552654 | SCV003736640 | uncertain significance | Inborn genetic diseases | 2022-01-31 | criteria provided, single submitter | clinical testing | The c.1519G>T (p.A507S) alteration is located in exon 14 (coding exon 14) of the RPE65 gene. This alteration results from a G to T substitution at nucleotide position 1519, causing the alanine (A) at amino acid position 507 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001273294 | SCV001456168 | uncertain significance | Leber congenital amaurosis | 2019-12-25 | no assertion criteria provided | clinical testing |