Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002014222 | SCV002301913 | uncertain significance | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2021-09-24 | criteria provided, single submitter | clinical testing | 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. 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. This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with histidine at codon 540 of the GUCY2D protein (p.Arg540His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. |
Ambry Genetics | RCV004046689 | SCV004879617 | uncertain significance | Inborn genetic diseases | 2024-01-30 | criteria provided, single submitter | clinical testing | The c.1619G>A (p.R540H) alteration is located in exon 7 (coding exon 6) of the GUCY2D gene. This alteration results from a G to A substitution at nucleotide position 1619, causing the arginine (R) at amino acid position 540 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |