ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.1681T>A (p.Phe561Ile)

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
Neuberg Centre For Genomic Medicine, NCGM RCV003444426 SCV004171359 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 criteria provided, single submitter clinical testing The missense c.1681T>A(p.Phe561Ile) variant in PIGO gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Phe561Ile variant is novel (not in any individuals) in both gnomAD Exomes and 1000 Genomes databases. This variant has not been reported to the ClinVar database. The amino acid change p.Phe561Ile in PIGO is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Phe at position 561 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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.