Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002486024 | SCV002783741 | uncertain significance | Leber congenital amaurosis 13 | 2022-01-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002486024 | SCV003251258 | uncertain significance | Leber congenital amaurosis 13 | 2022-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 253 of the RDH12 protein (p.Pro253Arg). This variant is present in population databases (rs770465995, gnomAD 0.005%). 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: 989725). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RDH12 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 | RCV002537755 | SCV003698841 | uncertain significance | Inborn genetic diseases | 2021-08-13 | criteria provided, single submitter | clinical testing | The c.758C>G (p.P253R) alteration is located in exon 8 (coding exon 6) of the RDH12 gene. This alteration results from a C to G substitution at nucleotide position 758, causing the proline (P) at amino acid position 253 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Natera, |
RCV001277617 | SCV001464581 | uncertain significance | Leber congenital amaurosis | 2020-08-14 | no assertion criteria provided | clinical testing |