ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1831A>G (p.Ile611Val)

dbSNP: rs138315079
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203829 SCV000259701 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 611 of the RAD50 protein (p.Ile611Val). This variant is present in population databases (rs138315079, gnomAD 0.006%). 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: 219689). 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.
Ambry Genetics RCV000203829 SCV000663645 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-24 criteria provided, single submitter clinical testing The p.I611V variant (also known as c.1831A>G), located in coding exon 12 of the RAD50 gene, results from an A to G substitution at nucleotide position 1831. The isoleucine at codon 611 is replaced by valine, 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.
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030504 SCV001193704 uncertain significance Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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