ClinVar Miner

Submissions for variant NM_005431.2(XRCC2):c.229G>C (p.Glu77Gln) (rs142527605)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV001015104 SCV000838294 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000988019 SCV001137566 uncertain significance Fanconi anemia, complementation group U 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015104 SCV001175900 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-17 criteria provided, single submitter clinical testing The p.E77Q variant (also known as c.229G>C), located in coding exon 3 of the XRCC2 gene, results from a G to C substitution at nucleotide position 229. The glutamic acid at codon 77 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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