ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.581T>A (p.Ile194Asn)

dbSNP: rs2148089918
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001543683 SCV001762376 uncertain significance X-linked lymphoproliferative disease due to XIAP deficiency 2021-06-28 criteria provided, single submitter clinical testing XIAP c.581T>A is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. This variant affects an amino acid residue in the XIAP BIR2 domain, where other disease-associated missense variants are located. Of three bioinformatics tools queried, one predicts that the substitution would be damaging, while two predict that it would be tolerated. The isoleucine residue at this position is evolutionarily conserved across most mammalian species assessed. We consider the clinical significance of XIAP c.581T>A to be uncertain at this time.

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