Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001306870 | SCV001496255 | uncertain significance | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2022-02-08 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 313 of the GUCY2D protein (p.Arg313Cys). This variant is present in population databases (rs61749674, gnomAD 0.007%). This missense change has been observed in individuals with Leber congenital amaurosis (PMID: 10951519, 34048777; Invitae). ClinVar contains an entry for this variant (Variation ID: 98611). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on GUCY2D function (PMID: 11328726). 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. |
Gene |
RCV000084907 | SCV001986110 | uncertain significance | not provided | 2020-04-29 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Observed with a pathogenic variant in a patient with Leber congenital amaurosis in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Perrault et al., 2000); This variant is associated with the following publications: (PMID: 10951519) |
Retina International | RCV000084907 | SCV000117043 | not provided | not provided | no assertion provided | not provided | ||
Laboratory of Genetics in Ophthalmology, |
RCV001250827 | SCV001426314 | likely pathogenic | Leber congenital amaurosis 1 | no assertion criteria provided | research |