Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001037095 | SCV001200492 | uncertain significance | Leber congenital amaurosis 13 | 2022-03-10 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 265 of the RDH12 protein (p.Ser265Thr). This variant is present in population databases (rs766633594, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with RDH12-related conditions. ClinVar contains an entry for this variant (Variation ID: 836061). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine 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. |
| Blueprint Genetics | RCV001075861 | SCV001241500 | uncertain significance | Retinal dystrophy | 2019-08-09 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002551374 | SCV003586885 | uncertain significance | Inborn genetic diseases | 2022-07-13 | criteria provided, single submitter | clinical testing | The c.794G>C (p.S265T) alteration is located in exon 8 (coding exon 6) of the RDH12 gene. This alteration results from a G to C substitution at nucleotide position 794, causing the serine (S) at amino acid position 265 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |