ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.1232C>A (p.Ser411Ter)

dbSNP: rs62644477
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 RCV002509216 SCV002818527 likely pathogenic Phenylketonuria 2022-12-09 reviewed by expert panel curation The NM_000277.3(PAH):c.1232C>A (p.Ser411Ter) variant in exon 12 of PAH is a nonsense variant predicted to cause a premature stop codon in biologically-relevant-exon 12/13 and is predicted to lead to nonsense mediated decay (PVS1). This variant is absent from gnomAD v2.1.1 (PM2). The variant has been reported in one patient in PMID: 17935162 however additional phenotype and genotype information was not specified. In summary, this variant meets the criteria to be classified as likely pathogenic for autosomal recessive phenylketonuria based on the ACMG/AMP criteria applied, as specified by the ClinGen PAH VCEP: PVS1, PM2. (PAH VCEP specifications version 1)
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000088810 SCV000119400 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.