ClinVar Miner

Submissions for variant NM_005026.5(PIK3CD):c.1570T>A (p.Tyr524Asn)

dbSNP: rs2100954909
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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 RCV001916035 SCV002181833 pathogenic Immunodeficiency 14 2021-11-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Tyr524 amino acid residue in PIK3CD. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 31031754). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This missense change has been observed in individual(s) with activated PI3K-delta syndrome (PMID: 30138677, 30499059). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 524 of the PIK3CD protein (p.Tyr524Asn).

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