ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)

gnomAD frequency: 0.00001  dbSNP: rs886044640
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
Eurofins Ntd Llc (ga) RCV000311953 SCV000345761 pathogenic not provided 2016-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000984172 SCV002189903 pathogenic Tyrosinemia type I 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr321*) in the FAH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAH are known to be pathogenic (PMID: 9101289, 9633815). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FAH-related conditions. ClinVar contains an entry for this variant (Variation ID: 291075). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000984172 SCV004195901 likely pathogenic Tyrosinemia type I 2023-03-30 criteria provided, single submitter clinical testing
Counsyl RCV000984172 SCV001132186 likely pathogenic Tyrosinemia type I 2014-11-17 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.