ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser)

gnomAD frequency: 0.00001  dbSNP: rs777046879
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003556231 SCV004295667 likely pathogenic not provided 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 325 of the HOGA1 protein (p.Gly325Ser). This variant is present in population databases (rs777046879, gnomAD 0.009%). This missense change has been observed in individual(s) with primary hyperoxaluria (PMID: 25644115, 34245816). ClinVar contains an entry for this variant (Variation ID: 204284). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt HOGA1 protein function. 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.
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186491 SCV000239853 pathogenic Primary hyperoxaluria type 3 2014-11-27 no assertion criteria provided research Prediction

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.