ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.1141A>G (p.Arg381Gly)

dbSNP: rs121965077
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 RCV000012647 SCV001206349 pathogenic Tyrosinemia type I 2023-01-01 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects FAH function (PMID: 31300554). 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 not expected to disrupt FAH protein function. ClinVar contains an entry for this variant (Variation ID: 11872). This missense change has been observed in individual(s) with clinical features of tyrosinemia type 1 (PMID: 7757089; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 381 of the FAH protein (p.Arg381Gly).
Baylor Genetics RCV000012647 SCV004195899 pathogenic Tyrosinemia type I 2023-06-06 criteria provided, single submitter clinical testing
OMIM RCV000012647 SCV000032882 pathogenic Tyrosinemia type I 1995-02-01 no assertion criteria provided literature only
Natera, Inc. RCV000012647 SCV002089848 likely pathogenic Tyrosinemia type I 2018-05-30 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.