Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001226435 | SCV001398748 | uncertain significance | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 386 of the IMPG1 protein (p.Ala386Asp). This variant is present in population databases (rs144437882, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of inherited retinal disease and/or macular dystrophy (PMID: 28041643, 32581362). ClinVar contains an entry for this variant (Variation ID: 438085). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
NIHR Bioresource Rare Diseases, |
RCV000504831 | SCV000598930 | likely pathogenic | Macular dystrophy | 2015-01-01 | no assertion criteria provided | research |