ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1244A>T (p.Asp415Val)

dbSNP: rs2136632085
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 RCV002260504 SCV002540170 pathogenic Phenylketonuria 2020-11-09 reviewed by expert panel curation The c.1244A>T (p.Asp415Val) variant in PAH has been reported in 2 individuals with PKU, detected in trans with pathogenic variants c.1066-11G>A and c.47_48delCT (PMID: 21890392). This variant is absent in population databases. Computational prediction tools and conservation analysis support a deleterious effect. Another missense variant at the same amino acid is interpreted as pathogenic (p.Asp415Asn) In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PM3_strong, PM2, PM5, PP3, PP4.

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.