Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001053107 | SCV001217351 | pathogenic | not provided | 2024-01-09 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 124 of the IMPG2 protein (p.Phe124Leu). This variant is present in population databases (rs201893545, gnomAD 0.01%). This missense change has been observed in individual(s) with rod-cone dystrophy or autosomal recessive maculopathy (PMID: 20673862; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 3550). 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. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000003728 | SCV000023891 | pathogenic | Vitelliform macular dystrophy 5 | 2014-12-01 | no assertion criteria provided | literature only | |
Sharon lab, |
RCV001003057 | SCV001161114 | likely pathogenic | Retinitis pigmentosa | 2019-06-23 | no assertion criteria provided | research |