ClinVar Miner

Submissions for variant NM_138413.4(HOGA1):c.2T>G (p.Met1Arg)

dbSNP: rs529940373
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001870848 SCV002134380 pathogenic not provided 2023-07-25 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the HOGA1 mRNA. The next in-frame methionine is located at codon 100. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with primary hyperoxaluria type 3 (PMID: 25972204). 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: 1369845). This variant disrupts the p.Ala36 amino acid residue in HOGA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22391140, 24563386; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as 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.