ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.1328G>A (p.Arg443His)

gnomAD frequency: 0.00002  dbSNP: rs1173411245
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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 RCV001864795 SCV002126954 uncertain significance X-linked lymphoproliferative disease due to XIAP deficiency 2020-12-17 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). This variant has been observed in individual(s) with clinical features of X-linked lymphoproliferative syndrome (PMID: 29665027, 31754776). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with histidine at codon 443 of the XIAP protein (p.Arg443His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine.

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