ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.1137-2A>G

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
Clinical Genomics Laboratory, Washington University in St. Louis RCV004556015 SCV005045170 likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2023-11-27 criteria provided, single submitter clinical testing The PHIP c.1137-2A>G variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant occurs within the canonical splice acceptor site, which is predicted to cause skipping of the exon, leading to an in-frame transcript missing 32 amino acids in a WD repeat domain. Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as likely pathogenic.

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.