Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
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 |
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, |
RCV000990940 | SCV002073895 | pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency | 2021-12-28 | criteria provided, single submitter | clinical testing |