ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2221G>C (p.Asp741His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003328524 SCV004035133 uncertain significance Familial cancer of breast 2023-09-17 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine,at codon 741 of the RAD50 protein (p.Asp741His). This variant is not present in population databases (gnomAD no frequency). This amino acid position is conserved ( PhyloP=7.33). This variant has not been reported in the literature in individuals affected with RAD50-related conditions.In addition, this alteration is predicted to be tolerated by in silico analysis. 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.

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