ClinVar Miner

Submissions for variant NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) (rs61762969)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115894 SCV000149803 likely benign not specified 2017-09-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CSER_CC_NCGL; University of Washington Medical Center RCV000211556 SCV000212185 uncertain significance Colon cancer 2015-03-11 criteria provided, single submitter research
Invitae RCV000791413 SCV000550370 uncertain significance not provided 2018-11-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 207 of the XRCC2 protein (p.Glu207Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs61762969, ExAC 0.02%). This variant has been reported in the literature in individuals affected with breast and pancreatic cancer, and an unaffected control individual (PMID: 23054243, 28767289). ClinVar contains an entry for this variant (Variation ID: 127960). Experimental studies have shown that this missense change does not impact XRCC2 DNA repair activity (PMID: 27233470). 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.
Ambry Genetics RCV000571792 SCV000675840 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Mendelics RCV000709052 SCV000838286 uncertain significance Hereditary Cancer Syndrome 2018-07-02 criteria provided, single submitter clinical testing

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