ClinVar Miner

Submissions for variant NM_000277.3(PAH):c.970-2A>C

dbSNP: rs62517199
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 RCV001269320 SCV001448671 likely pathogenic Phenylketonuria 2020-08-27 reviewed by expert panel curation The c.970-2A>C variant in PAH is a canonical splice-site variant predicted to lead to skipping of exon 10 (PVS1_Strong). It is absent from ethnically diverse control databases, including gnomAD/ExAC, 1000 Genomes, and ESP (PM2). It is reported in ClinVar (variant ID 102918), without a classification. It has been previously reported (PMID: 7866411) in one Polish proband with classic PKU (as ascertained by abnormal blood Phe levels; BH4 deficiency does not appear to have been formally excluded) (PP4), who was homozygous for the variant (0.5 points; PM3_Supporting). Classification: Likely Pathogenic Supporting Criteria: PVS1_Strong; PM2; PM3_Supporting; PP4
DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE RCV000089184 SCV000119799 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.