ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.3057T>A (p.Phe1019Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003314983 SCV004014444 uncertain significance not provided 2023-01-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003745582 SCV004476495 uncertain significance Immunodeficiency 14 2022-11-05 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1019 of the PIK3CD protein (p.Phe1019Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PIK3CD-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PIK3CD protein function. 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.
Rarefied Biosciences Lab RCV004813226 SCV005420907 likely benign Activated PI3K-delta syndrome no assertion criteria provided research The following variant p.Phe1019Leu is likely benign due to experimental evidence showing no abnormal function of of TFH, mTOR, and transitional B cells which are hallmarks of affected patients.

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