ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.699G>T (p.Gln233His)

dbSNP: rs755911947
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702868 SCV000831740 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-19 criteria provided, single submitter clinical testing 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) performed at Invitae indicates that this missense variant is expected to disrupt RAD50 protein function. ClinVar contains an entry for this variant (Variation ID: 579553). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 233 of the RAD50 protein (p.Gln233His).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265865 SCV002548393 uncertain significance not specified 2022-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000702868 SCV002665414 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-11 criteria provided, single submitter clinical testing The p.Q233H variant (also known as c.699G>T), located in coding exon 5 of the RAD50 gene, results from a G to T substitution at nucleotide position 699. The glutamine at codon 233 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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