ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.568dup (p.Tyr190fs)

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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 RCV005124113 SCV005747431 pathogenic X-linked lymphoproliferative disease due to XIAP deficiency 2024-04-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr190Leufs*7) in the XIAP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in XIAP are known to be pathogenic (PMID: 17080092, 21119115, 25666262). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hemophagocytic lymphohistiocytosis (PMID: 34586554). For these reasons, this variant has been classified as Pathogenic.

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