ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.446dup (p.Ser150fs)

dbSNP: rs2053348979
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230875 SCV001403375 pathogenic X-linked lymphoproliferative disease due to XIAP deficiency 2019-08-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser150Ilefs*13) in the XIAP gene. It is expected to result in an absent or disrupted protein product.

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