ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.2530A>T (p.Met844Leu)

gnomAD frequency: 0.00009  dbSNP: rs200369205
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315772 SCV001506364 uncertain significance Immunodeficiency 14 2024-07-05 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 844 of the PIK3CD protein (p.Met844Leu). This variant is present in population databases (rs200369205, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PIK3CD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1016726). 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. 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.
PreventionGenetics, part of Exact Sciences RCV003405535 SCV004115679 uncertain significance PIK3CD-related disorder 2023-05-30 criteria provided, single submitter clinical testing The PIK3CD c.2530A>T variant is predicted to result in the amino acid substitution p.Met844Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0056% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-9783286-A-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004034368 SCV005006180 uncertain significance Inborn genetic diseases 2024-01-16 criteria provided, single submitter clinical testing The c.2530A>T (p.M844L) alteration is located in exon 20 (coding exon 18) of the PIK3CD gene. This alteration results from a A to T substitution at nucleotide position 2530, causing the methionine (M) at amino acid position 844 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Immunology Clinic, Ucla RCV001315772 SCV005044900 pathogenic Immunodeficiency 14 no assertion criteria provided research

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.