ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1589A>G (p.His530Arg)

dbSNP: rs746234977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685839 SCV000813338 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-11 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 530 of the RAD50 protein (p.His530Arg). 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: 566109). 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 RCV000685839 SCV003998332 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-26 criteria provided, single submitter clinical testing The p.H530R variant (also known as c.1589A>G), located in coding exon 10 of the RAD50 gene, results from an A to G substitution at nucleotide position 1589. The histidine at codon 530 is replaced by arginine, 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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