Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002766042 | SCV003027270 | uncertain significance | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2022-05-29 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 590 of the GUCY2D protein (p.Glu590Asp). This variant is not present in population databases (gnomAD no frequency). 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |
Ambry Genetics | RCV002766043 | SCV003603348 | uncertain significance | Inborn genetic diseases | 2022-01-27 | criteria provided, single submitter | clinical testing | The c.1770G>T (p.E590D) alteration is located in exon 9 (coding exon 8) of the GUCY2D gene. This alteration results from a G to T substitution at nucleotide position 1770, causing the glutamic acid (E) at amino acid position 590 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |