ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.1025dup (p.Asp344fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215629 SCV001387383 likely pathogenic Tyrosinemia type I 2019-08-21 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the FAH gene (p.Asp344Glyfs*46). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 76 amino acids of the FAH protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FAH-related conditions. This variant disrupts the p.Gly404 amino acid residue in FAH. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 27814443, 21117323, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.