ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.830_831insC (p.Thr278fs)

dbSNP: rs2136646052
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
NxGen MDx RCV001506975 SCV001653754 likely pathogenic Phenylketonuria 2019-12-02 criteria provided, single submitter clinical testing This variant (c.830_831insC) is predicted to result in a frameshift and premature peptide translation termination or nonsense mediated decay (p.Thr278TyrfsTer5 PVS1). This variant is not found in gnomAD population databases (PM2). Dworniczak et al. (PMID 1363786) describes a frameshift mutation that occurs across this location, c.822_832delGCCCATGTATA that is classified in ClinVar (VCV000102852.3) as pathogenic. We interpret c.830_831insC to be 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.