ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.1386del (p.Phe462fs)

dbSNP: rs2148112215
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001995669 SCV002271767 uncertain significance X-linked lymphoproliferative disease due to XIAP deficiency 2022-09-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts the C-terminus of the XIAP protein. Other variant(s) that disrupt this region (p.Gln492*, p.Gly466*) have been observed in individuals with XIAP-related conditions (PMID: 21543760, 27815752). This suggests that this may be a clinically significant region of the protein. ClinVar contains an entry for this variant (Variation ID: 1482523). This premature translational stop signal has been observed in individual(s) with EBV-associated lymphoproliferation (PMID: 23973892). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe462Leufs*7) in the XIAP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 36 amino acid(s) of the XIAP protein.

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