Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001266640 | SCV001444816 | likely pathogenic | Inborn genetic diseases | 2018-08-27 | criteria provided, single submitter | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000513428 | SCV002499078 | likely pathogenic | Galloway-Mowat syndrome 3 | 2022-02-23 | criteria provided, single submitter | clinical testing | PS3_Moderate, PM2, PM3, PP1, PP3 |
Invitae | RCV002524975 | SCV003442264 | likely pathogenic | not provided | 2022-02-19 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 280 of the OSGEP protein (p.Arg280Cys). This variant is present in population databases (rs374322839, gnomAD 0.006%). This missense change has been observed in individual(s) with Galloway–Mowat syndrome (PMID: 28805828). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 444892). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). Experimental studies have shown that this missense change affects OSGEP function (PMID: 28805828). This variant disrupts the p.Arg280 amino acid residue in OSGEP. Other variant(s) that disrupt this residue have been observed in individuals with OSGEP-related conditions (PMID: 28805828), which suggests that this may be a clinically significant amino acid residue. 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. |
OMIM | RCV000513428 | SCV000609475 | pathogenic | Galloway-Mowat syndrome 3 | 2017-10-26 | no assertion criteria provided | literature only |