Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001043608 | SCV001207363 | pathogenic | Leber congenital amaurosis 13 | 2023-11-28 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 146 of the RDH12 protein (p.Val146Asp). This variant is present in population databases (rs116649873, gnomAD 0.02%). This missense change has been observed in individuals with autosomal recessive RDH12-related conditions (PMID: 23661369, 26047050, 26124963, 30134391). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 841398). 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 with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001043608 | SCV004208565 | pathogenic | Leber congenital amaurosis 13 | 2024-03-17 | criteria provided, single submitter | clinical testing | |
Juno Genomics, |
RCV001043608 | SCV005417788 | pathogenic | Leber congenital amaurosis 13 | criteria provided, single submitter | clinical testing | PM2_Supporting+PP3_Strong+PM3_VeryStrong+PP1 | |
Natera, |
RCV001277203 | SCV001464102 | pathogenic | Leber congenital amaurosis | 2020-09-16 | no assertion criteria provided | clinical testing |