ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter)

dbSNP: rs1556408009
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626775 SCV000747478 pathogenic Recurrent infections; Sepsis 2017-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788724 SCV000927942 pathogenic not provided 2018-09-18 criteria provided, single submitter clinical testing
Mendelics RCV000990940 SCV001142010 pathogenic X-linked lymphoproliferative disease due to XIAP deficiency 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000990940 SCV001587963 pathogenic X-linked lymphoproliferative disease due to XIAP deficiency 2022-07-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 523420). This premature translational stop signal has been observed in individual(s) with clinical features of X-linked lymphoproliferative syndrome 2 (PMID: 21119115, 27747465, 28936583). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg381*) 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). For these reasons, this variant has been classified as Pathogenic.
Genomics Facility, Ludwig-Maximilians-Universität München RCV000990940 SCV002073895 pathogenic X-linked lymphoproliferative disease due to XIAP deficiency 2021-12-28 criteria provided, single submitter clinical testing

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