ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys)

dbSNP: rs150702945
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186477 SCV000239837 pathogenic Primary hyperoxaluria type 3 2023-10-27 criteria provided, single submitter clinical testing ACMG: PS5 PM1 PM2 PM3 PP3. Raised urinary hydroxyoxoglutarate and dihydroxyglutarate
Counsyl RCV000186477 SCV000800579 uncertain significance Primary hyperoxaluria type 3 2017-08-17 criteria provided, single submitter clinical testing
Invitae RCV002513971 SCV002962264 likely pathogenic not provided 2023-04-04 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 204270). This missense change has been observed in individual(s) with autosomal recessive hyperoxaluria (PMID: 26342005). This variant is present in population databases (rs150702945, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 113 of the HOGA1 protein (p.Glu113Lys). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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.