ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.214_217dup (p.Trp73Ter)

dbSNP: rs2053346219
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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 RCV001065914 SCV001230904 pathogenic X-linked lymphoproliferative disease due to XIAP deficiency 2019-12-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp73*) in the XIAP gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in XIAP are known to be pathogenic (PMID: 17080092, 21119115, 25666262). This variant has not been reported in the literature in individuals with XIAP-related conditions.

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