ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.1097_1099del (p.Ser366del)

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
Invitae RCV002922331 SCV003259728 uncertain significance Tyrosinemia type I 2022-05-27 criteria provided, single submitter clinical testing This variant, c.1097_1099del, results in the deletion of 1 amino acid(s) of the FAH protein (p.Ser366del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has been observed in individual(s) with tyrosinemia type I (PMID: 9633815). This variant is also known as 1153DELCGT. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV002922331 SCV004195906 likely pathogenic Tyrosinemia type I 2023-03-02 criteria provided, single submitter 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.