ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.117C>A (p.Tyr39Ter)

gnomAD frequency: 0.00001  dbSNP: rs746419489
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001069053 SCV001234197 pathogenic not provided 2023-06-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs746419489, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Tyr39*) in the HOGA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HOGA1 are known to be pathogenic (PMID: 22391140, 22781098). This premature translational stop signal has been observed in individual(s) with primary hyperoxaluria (PMID: 22391140). ClinVar contains an entry for this variant (Variation ID: 204268). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186475 SCV000239834 pathogenic Primary hyperoxaluria type 3 2014-11-27 no assertion criteria provided research
Natera, Inc. RCV000186475 SCV002094504 pathogenic Primary hyperoxaluria type 3 2020-12-24 no assertion criteria provided clinical testing

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.