Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001053170 | SCV001217417 | pathogenic | Leber congenital amaurosis 13 | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 304 of the RDH12 protein (p.Trp304Arg). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with autosomal recessive RDH12-related conditions (PMID: 27208204; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 236432). 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 expected to disrupt RDH12 protein function. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001053170 | SCV004208575 | likely pathogenic | Leber congenital amaurosis 13 | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Centre for Genomic Medicine, |
RCV000225474 | SCV000282538 | uncertain significance | Retinal dystrophy | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001828100 | SCV002091291 | uncertain significance | Leber congenital amaurosis | 2020-12-10 | no assertion criteria provided | clinical testing |