ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.1021_1022del (p.Asn341fs)

dbSNP: rs1556406033
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000515791 SCV004298979 pathogenic X-linked lymphoproliferative disease due to XIAP deficiency 2023-02-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 446508). This sequence change creates a premature translational stop signal (p.Asn341Tyrfs*8) 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 XIAP deficiency (PMID: 22228567). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000515791 SCV000611883 pathogenic X-linked lymphoproliferative disease due to XIAP deficiency 2017-12-05 no assertion criteria provided literature only

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