ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.871G>T (p.Val291Leu)

dbSNP: rs1875160008
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 RCV001199980 SCV001370807 uncertain significance Phenylketonuria 2020-06-18 reviewed by expert panel curation The c.871G>T (p.Val291Leu) variant in PAH has been reported in a Chinese patient with mild hyperphenylalaninemia (BH4 deficiency excluded) (PMID: 26503515, 29499199) This variant is absent from population databases. A deleterious effect is predicted by multiple lines of computational evidence. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PP3.

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.