ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1353_1367del (p.Leu452_Leu456del)

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 RCV005251525 SCV005902217 likely pathogenic PIK3CA related overgrowth syndrome 2024-08-30 criteria provided, single submitter clinical testing A PIK3CA c.1353_1367del (p.Leu452_Leu456del) variant was identified at an allelic fraction consistent with somatic origin. This variant, to our knowledge, has not been reported in the medical literature. It is absent from the general population (gnomAD v.4.1.0), indicating it is not a common variant. This variant resides within a region, the C2 domain, of PIK3CA that is defined as a critical functional domain (Lai A et al., PMID: 35997716). The PIK3CA c.1353_1367del (p.Leu452_Leu456del) variant is predicted to cause a change in the length of the protein due to an in-frame deletion of five amino acids in a non-repeat region. Based on available information and an internally developed protocol informed by the ACMG/AMP guidelines for variant interpretation and gene-specific practices from the ClinGen Criteria Specification Registry (Leon-Quintero FZ et al., PMID: 39434542), the PIK3CA c.1353_1367del (p.Leu452_Leu456del) 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.