ClinVar Miner

Submissions for variant NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys)

gnomAD frequency: 0.00005  dbSNP: rs374322839
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
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, Greenwood Genetic Center 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.