ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2197G>A (p.Val733Met)

gnomAD frequency: 0.00001  dbSNP: rs1315534097
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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 RCV001014741 SCV001175490 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-18 criteria provided, single submitter clinical testing The p.V733M variant (also known as c.2197G>A), located in coding exon 13 of the RAD50 gene, results from a G to A substitution at nucleotide position 2197. The valine at codon 733 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well 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 RCV001014741 SCV001396189 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-30 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 733 of the RAD50 protein (p.Val733Met). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 820869). 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. 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 RCV003461343 SCV004207375 uncertain significance Nijmegen breakage syndrome-like disorder 2023-07-04 criteria provided, single submitter clinical testing

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