ClinVar Miner

Submissions for variant NM_005431.2(XRCC2):c.698A>T (p.Gln233Leu) (rs946075316)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709048 SCV000838282 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000817726 SCV000958305 uncertain significance not provided 2018-11-25 criteria provided, single submitter clinical testing This sequence change replaces glutamine with leucine at codon 233 of the XRCC2 protein (p.Gln233Leu). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with XRCC2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.
Mendelics RCV000988012 SCV001137558 uncertain significance Fanconi anemia, complementation group U 2019-05-28 criteria provided, single submitter clinical testing

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