ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.482A>G (p.Tyr161Cys)

dbSNP: rs2053349276
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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 RCV001058343 SCV001222903 uncertain significance X-linked lymphoproliferative disease due to XIAP deficiency 2022-06-08 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 cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 853520). 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 tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 161 of the XIAP protein (p.Tyr161Cys).
Breakthrough Genomics, Breakthrough Genomics RCV004693539 SCV005192330 uncertain significance not provided criteria provided, single submitter not provided

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