Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001373204 | SCV001569909 | likely pathogenic | not provided | 2023-11-10 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 626 of the IMPG1 protein (p.Leu626Phe). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individuals with clinical features of autosomal dominant retinitis pigmentosa (PMID: 32817297; Invitae). ClinVar contains an entry for this variant (Variation ID: 1063374). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
| SIB Swiss Institute of Bioinformatics | RCV002222204 | SCV002499760 | uncertain significance | Benign concentric annular macular dystrophy | 2022-03-18 | criteria provided, single submitter | curation | This variant is interpreted as a variant of uncertain significance for Retinitis pigmentosa 91, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3). |
| Ophthalmic Genetics Group, |
RCV003324563 | SCV004030416 | likely pathogenic | Retinitis pigmentosa | 2023-07-24 | criteria provided, single submitter | research | Clinical significance based on ACMG v2.0 |