ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.2736dup (p.Pro913fs)

dbSNP: rs1587159769
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825540 SCV000966856 likely pathogenic Hyperphosphatasia-intellectual disability syndrome 2018-09-21 criteria provided, single submitter clinical testing The p.Pro496SerfsX53 variant in PIGO has not been previously reported in individ uals with hyperphosphatasia-intellectual disability syndrome, also known as Mabr y syndrome, and was absent from large population studies. This variant is predic ted to cause a frameshift, which alters the protein?s amino acid sequence beginn ing at position 496 and leads to a premature termination codon 53 amino acids do wnstream. This alteration is then predicted to lead to a truncated or absent pro tein. Loss of function of the PIGO gene is strongly associated to autosomal rec essive hyperphosphatasia-intellectual disability syndrome. In summary, although additional studies are required to fully establish its clinical significance, th e p.Pro496SerfsX53 variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1 , PM2.

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.