ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.509T>A (p.Phe170Tyr)

dbSNP: rs2148089869
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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 RCV001867516 SCV002135308 uncertain significance X-linked lymphoproliferative disease due to XIAP deficiency 2023-08-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1368480). This variant has not been reported in the literature in individuals affected with XIAP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine with tyrosine at codon 170 of the XIAP protein (p.Phe170Tyr). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and tyrosine. 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. 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 XIAP protein function.

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