ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.716G>A (p.Ser239Asn)

gnomAD frequency: 0.00001  dbSNP: rs751640412
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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 RCV002033224 SCV002114832 uncertain significance X-linked lymphoproliferative disease due to XIAP deficiency 2021-11-26 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with XIAP-related conditions. This variant is present in population databases (rs751640412, gnomAD 0.001%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 239 of the XIAP protein (p.Ser239Asn).

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