ClinVar Miner

Submissions for variant NM_000137.2(FAH):c.81+2T>A (rs772895065)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000454161 SCV000800760 likely pathogenic Tyrosinemia type I 2017-05-02 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000454161 SCV000538027 uncertain significance Tyrosinemia type I 2015-09-01 criteria provided, single submitter clinical testing The c.81+2T>A variant in the FAH gene is a novel variant at the canonical splice site and is predicted to affect the splice donor site in intron 1 leading to abnormal splicing. Splice site variants that result in the absence of the FAH enzyme represent a well-established mechanism of disease in tyrosinemia type 1. This variant has not been reported in the 1000 genomes and Exome Sequencing Project control population databases and has been seen at very low frequency in ExAc (0.003%). In addition, splice-site computational algorithms have predicted this variant to abrogate splicing. While we have provisionally classified this variant as likely pathogenic, splicing studies are necessary to confirm this interpretation. To confirm these findings, we recommend submission of another blood specimen from this individual for RNA analysis. Please note that specific collection criteria are required for this sample. For more details and instructions about sample collection (including a specimen collection kit), please contact our laboratory.

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.