ClinVar Miner

Submissions for variant NM_005431.2(XRCC2):c.644G>A (p.Arg215Gln) (rs762828701)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235653 SCV000293499 uncertain significance not provided 2015-11-16 criteria provided, single submitter clinical testing This variant is denoted XRCC2 c.644G>A at the cDNA level, p.Arg215Gln (R215Q) at the protein level, and results in the change of an Arginine to a Glutamine (CGA>CAA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. XRCC2 Arg215Gln was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Arginine and Glutamine differ in some properties, this is considered a semi-conservative amino acid substitution. XRCC2 Arg215Gln occurs at a position that is not conserved and is located in the ATPase domain (Kim 2011). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether XRCC2 Arg215Gln is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000564280 SCV000675850 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-23 criteria provided, single submitter clinical testing The p.R215Q variant (also known as c.644G>A), located in coding exon 3 of the XRCC2 gene, results from a G to A substitution at nucleotide position 644. The arginine at codon 215 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is poorly 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.
Mendelics RCV000564280 SCV000838284 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000988013 SCV001137559 uncertain significance Fanconi anemia, complementation group U 2019-05-28 criteria provided, single submitter clinical testing

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