ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1289T>C (p.Leu430Pro)

dbSNP: rs199475607
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 RCV001789756 SCV002032184 likely pathogenic Phenylketonuria 2020-08-17 reviewed by expert panel curation The c.1289T>C (p.Leu430Pro) variant in PAH has been reported in multiple individuals with PAH deficiency (BH4 deficiency excluded, PMID: 21307867). This variant is absent in population databases. This variant was detected with pathogenic variants: p.R241C (PMID: 21147011); p.S70del, p.R241C (PMID: 30050108); c.728G>A, p.R243Q (PMID: 31355225). Computational evidence support a deleterious effect. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3_strong, PP3.
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088824 SCV000119415 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.