ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.949T>C (p.Tyr317His)

dbSNP: rs1874872863
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 RCV001269317 SCV001448668 uncertain significance Phenylketonuria 2020-07-25 reviewed by expert panel curation The NM_000277.3:c.949T>C (p.Tyr317His) variant is a missense variant in exon 9/13 of PAH. The variant does not appear to have been reported in the published literature (as of 07/02/2020). The variant is absent from ethnically diverse control databases, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2). The variant is predicted damaging by multiple in-silico missense predictors, including REVEL (REVEL score 0.983), but tolerated by SIFT, such that PP3 is not met. Classification: VUS – insufficient evidence Supporting Criteria: PM2

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.