ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.311A>C (p.Gln104Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paediatric Laboratory, Institute for Maternal and Child Health - IRCCS Burlo Garofolo RCV004821361 SCV005442385 uncertain significance X-linked lymphoproliferative disease due to XIAP deficiency 2024-12-02 criteria provided, single submitter clinical testing The NM_001167.4:c.311A>C variant is predicted to result in the substitution of the glutamine residue at position 104 with a proline. This variant is not present in the gnomAD v4.1.0 population database [PM2]. Multiple computational tools predict the variant to be non-deleterious [BP4].

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