ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.836A>G (p.Gln279Arg)

gnomAD frequency: 0.00001  dbSNP: rs121965078
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000012650 SCV001576058 pathogenic Tyrosinemia type I 2023-07-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this missense change is associated with altered splicing resulting in multiple RNA products (PMID: 11476670). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 11875). This missense change has been observed in individual(s) with tyrosinemia, type 1 (PMID: 11196105). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 279 of the FAH protein (p.Gln279Arg).
Baylor Genetics RCV000012650 SCV004195886 likely pathogenic Tyrosinemia type I 2023-08-01 criteria provided, single submitter clinical testing
OMIM RCV000012650 SCV000032885 pathogenic Tyrosinemia type I 2000-12-01 no assertion criteria provided literature only
Natera, Inc. RCV000012650 SCV002089838 likely pathogenic Tyrosinemia type I 2020-05-22 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.