ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.2311G>A (p.Gly771Ser)

gnomAD frequency: 0.00001  dbSNP: rs200226248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706674 SCV000835740 uncertain significance Immunodeficiency 14 2023-07-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 582568). This variant has not been reported in the literature in individuals affected with PIK3CD-related conditions. This variant is present in population databases (rs200226248, gnomAD 0.03%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 771 of the PIK3CD protein (p.Gly771Ser). 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 not 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.
Ambry Genetics RCV002534467 SCV003588145 likely benign Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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