ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.2646_2647del (p.Asn882fs)

dbSNP: rs1553213060
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677635 SCV000803765 pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2017-07-21 criteria provided, single submitter clinical testing
3billion RCV000677635 SCV003841494 pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region. The variant has been reported to be associated with POGZ-related disorder (ClinVar ID: VCV000559853). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Genome-Nilou Lab RCV000677635 SCV004049800 pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2023-04-11 criteria provided, single submitter clinical testing

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.