ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.171A>G (p.Glu57=)

dbSNP: rs1556404487
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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 RCV000553259 SCV000639914 uncertain significance X-linked lymphoproliferative disease due to XIAP deficiency 2017-06-16 criteria provided, single submitter clinical testing This sequence change affects codon 57 of the XIAP mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the XIAP protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a XIAP-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on XIAP function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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