Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002775287 | SCV003021346 | uncertain significance | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2021-12-21 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1089 of the GUCY2D protein (p.Glu1089Gln). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. 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: "Possibly 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 | RCV002779988 | SCV003726372 | uncertain significance | Inborn genetic diseases | 2022-09-06 | criteria provided, single submitter | clinical testing | The c.3265G>C (p.E1089Q) alteration is located in exon 19 (coding exon 18) of the GUCY2D gene. This alteration results from a G to C substitution at nucleotide position 3265, causing the glutamic acid (E) at amino acid position 1089 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Institute of Human Genetics, |
RCV004817112 | SCV005073128 | uncertain significance | Retinal dystrophy | 2023-01-01 | no assertion criteria provided | clinical testing |