ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.844G>C (p.Glu282Gln)

dbSNP: rs777303823
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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 RCV001061497 SCV001226241 uncertain significance X-linked lymphoproliferative disease due to XIAP deficiency 2022-05-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 282 of the XIAP protein (p.Glu282Gln). 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: "Probably Damaging"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 856103). 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).

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