ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.136G>C (p.Gly46Arg)

dbSNP: rs74603784
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 RCV000758110 SCV000886584 likely pathogenic Phenylketonuria 2018-12-10 reviewed by expert panel curation The c.136G>C (p.Gly46Arg) variant in PAH has been reported in 1 individual with classic PKU (BH4 deficiency not totally excluded). (PP4; PMID: 25920592). This variant is absent in population databases (PM2). This variant was detected with a novel large deletion of exons 12 and 13: c.1200-?_1359+?del (EX12_13del). Computational evidence support a deleterious effect. A different pathogenic missense change has been seen at p.G46 (p.G46S) In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4, PM2, PM5, 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.