ClinVar Miner

Submissions for variant NM_000030.3(AGXT):c.847-3C>G

gnomAD frequency: 0.00003  dbSNP: rs180177286
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000186376 SCV000486821 pathogenic Primary hyperoxaluria, type I 2016-08-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000186376 SCV000893592 pathogenic Primary hyperoxaluria, type I 2024-04-01 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000186376 SCV000928385 pathogenic Primary hyperoxaluria, type I 2018-07-27 criteria provided, single submitter clinical testing PS4, PM2, PP4, PP5
Labcorp Genetics (formerly Invitae), Labcorp RCV000803735 SCV000943620 pathogenic not provided 2024-06-03 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the AGXT gene. It does not directly change the encoded amino acid sequence of the AGXT protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs180177286, gnomAD 0.01%). This variant has been observed in individual(s) with primary hyperoxaluria (PMID: 10862087, 20549407, 22844106, 25363903, 25629080). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.969-3C>G and IVS8-3C>G. ClinVar contains an entry for this variant (Variation ID: 204169). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV000803735 SCV002064029 likely pathogenic not provided 2022-02-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000186376 SCV003828713 likely pathogenic Primary hyperoxaluria, type I 2022-03-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV000186376 SCV004194238 pathogenic Primary hyperoxaluria, type I 2024-03-26 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186376 SCV000239724 pathogenic Primary hyperoxaluria, type I 2014-11-27 no assertion criteria provided research
Natera, Inc. RCV000186376 SCV001460164 pathogenic Primary hyperoxaluria, type I 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004755796 SCV005361978 pathogenic AGXT-related disorder 2024-03-22 no assertion criteria provided clinical testing The AGXT c.847-3C>G variant is predicted to interfere with splicing. This variant is also referred to as c.969-3C>G or IVS8-3C>G in the literature. It has been reported in the compound heterozygous and homozygous states in many individuals with primary hyperoxaluria (see, for example, Basmaison et al. 2000. PubMed ID: 10862087; Williams et al. 2015. PubMed ID: 25629080; Deesker et al. 2022. PubMed ID: 35812297). This variant is reported in 0.011% of alleles in individuals of European (non-Finnish) descent in gnomAD. This variant is interpreted 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.