ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1105C>G (p.Leu369Val)

dbSNP: rs2136635779
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 RCV001789826 SCV002032226 likely pathogenic Phenylketonuria 2020-01-21 reviewed by expert panel curation The c.1105C>G (p.Leu369Val) variant in PAH has been reported in 2 individuals with mild HPA (BH4 deficiency excluded). (PP4_Moderate; PMID: 18299955). This variant is absent in population databases (PM2). This variant was detected with pathogenic variants p.T380M and p.V230I (Parental analysis not reported, PM3). Computational evidence is conflicting. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PP4_Moderate, PM2, PM3.
Baylor Genetics RCV001789826 SCV004201975 likely pathogenic Phenylketonuria 2022-08-02 criteria provided, single submitter clinical testing

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.