ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.521C>T (p.Ser174Leu)

gnomAD frequency: 0.00003  dbSNP: rs148638384
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803781 SCV000943667 uncertain significance Immunodeficiency 14 2023-09-06 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 648948). This variant has not been reported in the literature in individuals affected with PIK3CD-related conditions. This variant is present in population databases (rs148638384, gnomAD 0.005%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 174 of the PIK3CD protein (p.Ser174Leu). 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.

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