Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001364959 | SCV001561170 | uncertain significance | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2022-08-07 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 623 of the GUCY2D protein (p.Thr623Met). This variant is present in population databases (rs370742162, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 1056173). 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: "Benign"; 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 | RCV004036927 | SCV004879622 | uncertain significance | Inborn genetic diseases | 2023-12-17 | criteria provided, single submitter | clinical testing | The c.1868C>T (p.T623M) alteration is located in exon 9 (coding exon 8) of the GUCY2D gene. This alteration results from a C to T substitution at nucleotide position 1868, causing the threonine (T) at amino acid position 623 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |