ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.2206G>A (p.Asp736Asn)

gnomAD frequency: 0.00005  dbSNP: rs547875116
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233734 SCV001406342 uncertain significance Immunodeficiency 14 2024-08-29 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 736 of the PIK3CD protein (p.Asp736Asn). This variant is present in population databases (rs547875116, 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: 960245). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt PIK3CD protein function with a negative predictive value of 80%. 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.
Revvity Omics, Revvity RCV003130207 SCV003808372 uncertain significance not provided 2019-11-18 criteria provided, single submitter clinical testing
Rarefied Biosciences Lab RCV004801933 SCV005421945 likely benign Activated PI3K-delta syndrome no assertion criteria provided research p.Asp736Asn is classified here as likely benign due to experimental evidence show no gain of mTOR function in B or T cells. The proportion of transitional B cells is normal. The proportion of circulating TFH is high compared to healthy controls, but this finding is not unique to APDS.

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