ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.837del (p.Glu280fs)

dbSNP: rs281865429
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 RCV000106369 SCV001146744 pathogenic Phenylketonuria 2019-07-14 reviewed by expert panel curation The c.837del frameshift variant has been identified in at least 2 probands with classic PKU, BH4 deficiency not excluded (PMIDs: 10598814, 26666653). It has been detected in trans with pathogenic variants V388M (PMID: 10598814) and c.1315+1G>A (PMID: 26666653). This variant is absent from 1000G, Exac, and gnomAD databases. C.837delC generates a frameshift predicted to result in a premature stop codon 61 residues downstream in exon 10 and undergo NMD. In summary, this variant meets criteria to be classified as pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1, PM3, PM2, PP4.
Inserm U 954, Faculté de Médecine de Nancy RCV000106369 SCV000143869 probable-pathogenic Phenylketonuria no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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.