ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.551del (p.Lys184fs)

dbSNP: rs1875371722
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 RCV001269051 SCV001448244 pathogenic Phenylketonuria 2020-10-30 reviewed by expert panel curation The frameshift variant c.551del generates a stop codon in exon 6 of 13 and is predicted to undergo NMD. The variant is absent from population databases, including gnomAD. It has been in at least one HPA patient (PMID: 21307867). In summary, this variant meets criteria to be classified as Pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM2, PP4_moderate.

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.