ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.737C>T (p.Ser246Phe)

dbSNP: rs1602544652
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996012 SCV001150440 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549926 SCV003203708 uncertain significance X-linked lymphoproliferative disease due to XIAP deficiency 2022-06-04 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"). ClinVar contains an entry for this variant (Variation ID: 807811). 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 serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 246 of the XIAP protein (p.Ser246Phe).

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