ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.854T>C (p.Met285Thr)

gnomAD frequency: 0.00017  dbSNP: rs557471275
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651285 SCV000773136 uncertain significance Immunodeficiency 14 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 285 of the PIK3CD protein (p.Met285Thr). This variant is present in population databases (rs557471275, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. 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: 541085). 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 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252193 SCV002523357 uncertain significance See cases 2019-11-25 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4

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