ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.357del (p.Trp120fs) (rs794727619)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724124 SCV000230054 pathogenic not provided 2017-05-16 criteria provided, single submitter clinical testing
Invitae RCV000178065 SCV001201991 pathogenic Phenylketonuria 2019-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp120Glyfs*75) in the PAH gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PAH-related conditions. ClinVar contains an entry for this variant (Variation ID: 197125). Loss-of-function variants in PAH are known to be pathogenic (PMID: 1301187, 9634518). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000178065 SCV000792183 likely pathogenic Phenylketonuria 2017-06-09 no assertion criteria provided 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.