ClinVar Miner

Submissions for variant NM_005431.2(XRCC2):c.272G>A (p.Arg91Gln)

gnomAD frequency: 0.00002  dbSNP: rs776959023
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562172 SCV000675844 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-08 criteria provided, single submitter clinical testing The p.R91Q variant (also known as c.272G>A), located in coding exon 3 of the XRCC2 gene, results from a G to A substitution at nucleotide position 272. The arginine at codon 91 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001349599 SCV001543951 uncertain significance not provided 2023-09-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 486726). This variant has not been reported in the literature in individuals affected with XRCC2-related conditions. This variant is present in population databases (rs776959023, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 91 of the XRCC2 protein (p.Arg91Gln). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt XRCC2 protein function. 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.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004760626 SCV005374402 uncertain significance Fanconi anemia complementation group U 2024-09-22 criteria provided, single submitter clinical testing

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