ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1565A>G (p.Asp522Gly)

gnomAD frequency: 0.00004  dbSNP: rs863224737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196285 SCV000254881 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 522 of the RAD50 protein (p.Asp522Gly). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RAD50 protein function. ClinVar contains an entry for this variant (Variation ID: 216620).
Ambry Genetics RCV000196285 SCV000667072 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-26 criteria provided, single submitter clinical testing The p.D522G variant (also known as c.1565A>G), located in coding exon 10 of the RAD50 gene, results from an A to G substitution at nucleotide position 1565. The aspartic acid at codon 522 is replaced by glycine, an amino acid with 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.

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