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	Insufficient evidence
Mendelics	RCV000709050	SCV000838284	uncertain significance	Hereditary Cancer 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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