ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1022A>G (p.Lys341Arg)

dbSNP: rs62516153
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
ClinGen PAH Variant Curation Expert Panel RCV001543651 SCV001762328 uncertain significance Phenylketonuria 2019-12-15 reviewed by expert panel curation The c.1022A>G (p.Lys341Arg) variant in PAH has not been reported in a patient with PAH deficiency (to our knowledge). It was submitted to the PAHdb/McGill by Cadiou in 1994. This variant is absent from controls in ExAC, gnomAD, 1000 Genomes, and ESP. There are conflicting interpretations of pathogenicity: SIFT (T); PolyPhen2 (P); MutationTaster (D), REVEL=0.831. In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088703 SCV000119283 not provided not provided no assertion provided not provided

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.