ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.778C>T (p.Pro260Ser)

dbSNP: rs2148090201
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001961730 SCV002252616 uncertain significance X-linked lymphoproliferative disease due to XIAP deficiency 2022-02-05 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with XIAP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 260 of the XIAP protein (p.Pro260Ser).
3billion, Medical Genetics RCV001961730 SCV005329069 likely benign X-linked lymphoproliferative disease due to XIAP deficiency 2024-09-20 criteria provided, single submitter clinical testing The hemizygous variant was found in patients with no symptoms related to the gene containing the hemizygous variant.

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