ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.512G>C (p.Gly171Ala)

dbSNP: rs199475596
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen PAH Variant Curation Expert Panel RCV003474692 SCV004222636 likely pathogenic Phenylketonuria 2023-10-13 reviewed by expert panel curation The c.512G>C (p.Gly171Ala) variant in PAH has been reported in multiple individuals with PAH deficiency (BH4 deficiency excluded). (PP4_Moderate; PMID: 7833954, 9634518); detected with IVSl0nt546 (aka c.1066-11G>A PMID: 7833954). This variant is absent in population databases (PM2_supporting). This variant produces 27% enzyme activity as compared to wild type PAH (PMID: 10479481) Computational evidence supports a damaging effect (REVEL=0.947). In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PS3_supporting, PP4_Moderate, PM2_supporting, PP3_moderatePM3_supporting.
Baylor Genetics RCV003474692 SCV004201987 likely pathogenic Phenylketonuria 2022-01-03 criteria provided, single submitter clinical testing
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088965 SCV000119568 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.