ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.1428A>C (p.Glu476Asp)

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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 RCV003051113 SCV003448632 uncertain significance X-linked lymphoproliferative disease due to XIAP deficiency 2022-06-26 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 not been reported in the literature in individuals affected with XIAP-related conditions. This variant is present in population databases (rs147510195, gnomAD 0.04%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 476 of the XIAP protein (p.Glu476Asp).

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