ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.163T>G (p.Tyr55Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003583382 SCV004263910 uncertain significance Immunodeficiency 14 2023-06-11 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with PIK3CD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 55 of the PIK3CD protein (p.Tyr55Asp).
Immunology Clinic, Ucla RCV003583382 SCV005088163 benign Immunodeficiency 14 no assertion criteria provided research

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