Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001091055 | SCV001246892 | pathogenic | not provided | 2018-04-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000002140 | SCV001367154 | pathogenic | Leber congenital amaurosis 13 | 2018-10-11 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PM2,PP3. |
Invitae | RCV000002140 | SCV001420497 | pathogenic | Leber congenital amaurosis 13 | 2023-11-24 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 155 of the RDH12 protein (p.Thr155Ile). This variant is present in population databases (rs121434337, gnomAD 0.004%). This missense change has been observed in individuals with autosomal recessive retinal dystrophy (PMID: 16269441, 28157192, 30134391). ClinVar contains an entry for this variant (Variation ID: 2059). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RDH12 protein function. Experimental studies have shown that this missense change affects RDH12 function (PMID: 16269441). For these reasons, this variant has been classified as Pathogenic. |
Mendelics | RCV000002140 | SCV002518971 | pathogenic | Leber congenital amaurosis 13 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV002287317 | SCV002577891 | pathogenic | Rod-cone dystrophy | 2021-10-26 | criteria provided, single submitter | clinical testing | ACMG categories: PS1,PM2,PM7,PP3,PP5 |
Ophthalmic Genetics Group, |
RCV001826405 | SCV004030284 | pathogenic | Leber congenital amaurosis | 2023-07-24 | criteria provided, single submitter | research | Clinical significance based on ACMG v2.0 |
Ophthalmic Genetics Group, |
RCV003324481 | SCV004030285 | pathogenic | Cone-rod dystrophy | 2023-07-24 | criteria provided, single submitter | research | Clinical significance based on ACMG v2.0 |
Baylor Genetics | RCV000002140 | SCV004208577 | pathogenic | Leber congenital amaurosis 13 | 2023-09-19 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000002140 | SCV000022298 | pathogenic | Leber congenital amaurosis 13 | 2005-12-15 | no assertion criteria provided | literature only | |
Laboratory of Genetics in Ophthalmology, |
RCV000002140 | SCV001432276 | pathogenic | Leber congenital amaurosis 13 | no assertion criteria provided | research | ||
Natera, |
RCV001826405 | SCV002091269 | pathogenic | Leber congenital amaurosis | 2021-06-01 | no assertion criteria provided | clinical testing |