ClinVar Miner

Submissions for variant NM_015100.4(POGZ):c.2545+2del

dbSNP: rs2102155019
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
Institute of Human Genetics, University of Goettingen RCV002227398 SCV002506509 likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 2022-05-05 criteria provided, single submitter clinical testing The variant c.2545+2del (p.?) is located in the donor splice site of intron 17 of the POGZ-gene, it affects a canonical splice site and it is not found in the gnomAD database. In silico programs predict a significant impact on POGZ-RNA splicing (varSEAK SSP). This variant was found in a patient, who was referred to our institute due to speech developemental delay and microcephaly. ACMG criteria used for classification: 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.