ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1315+5G>C

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
ClinGen PAH Variant Curation Expert Panel RCV001093512 SCV001250544 uncertain significance Phenylketonuria 2019-12-22 reviewed by expert panel curation The c.1315+5G>C variant in PAH is absent from population databases (PM2) and human splice finder and MaxEnt Scan predict a deleterious effect on the WT donor splice site (PM3). It has been observed in at least 2 moderate or classic PKU patients with BH4 deficiency excluded (PMID: 30747360; PP4_moderate). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, PP3, PP4_moderate.

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.