Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ocular Genomics Institute, |
RCV001376296 | SCV001573390 | uncertain significance | Leber congenital amaurosis 1 | 2021-04-08 | criteria provided, single submitter | research | The GUCY2D c.2804C>T variant was identified in an individual with retinitis pigmentosa with a presumed dominant inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3. Based on this evidence we have classified this variant as Variant of Uncertain Significance. |
| Labcorp Genetics |
RCV001865896 | SCV002147008 | uncertain significance | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2023-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 935 of the GUCY2D protein (p.Ser935Leu). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with Leber congenital amaurosis (PMID: 26047050). ClinVar contains an entry for this variant (Variation ID: 1065694). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GUCY2D protein function. 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. |