ClinVar Miner

Submissions for variant NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu)

dbSNP: rs201598843
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 RCV001061051 SCV001225777 uncertain significance SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 2023-09-05 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. This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 229 of the PIK3R1 protein (p.Ser229Leu). This variant is present in population databases (rs201598843, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with PIK3R1-related conditions. ClinVar contains an entry for this variant (Variation ID: 855725). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated.

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.