ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.833G>A (p.Arg278Gln)

dbSNP: rs587782307
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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 RCV000131195 SCV000186145 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-22 criteria provided, single submitter clinical testing The p.R278Q variant (also known as c.833G>A), located in coding exon 6 of the RAD50 gene, results from a G to A substitution at nucleotide position 833. The arginine at codon 278 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 tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000131195 SCV000628326 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 278 of the RAD50 protein (p.Arg278Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 142205). 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 not expected to disrupt RAD50 protein function with a negative predictive value of 80%. 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.
Baylor Genetics RCV003462009 SCV004207391 uncertain significance Nijmegen breakage syndrome-like disorder 2023-06-14 criteria provided, single submitter clinical testing

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