ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.965C>T (p.Pro322Leu)

dbSNP: rs758304879
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212029 SCV001383601 uncertain significance Immunodeficiency 14 2019-09-10 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with PIK3CD-related conditions. This variant is present in population databases (rs758304879, ExAC 0.006%). This sequence change replaces proline with leucine at codon 322 of the PIK3CD protein (p.Pro322Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine.

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