ClinVar Miner

Submissions for variant NM_032634.4(PIGO):c.765G>T (p.Met255Ile)

dbSNP: rs1829550863
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
Invitae RCV001211126 SCV001382651 uncertain significance Hyperphosphatasia with intellectual disability syndrome 2 2019-10-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This missense variant has been observed to segregate with clinical features of early infantile epileptic encephalopathy, developmental delay and near normal levels of alkaline phosphatase in a family (PMID:28900819). This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with isoleucine at codon 255 of the PIGO protein (p.Met255Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine.

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.