ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3103G>T (p.Glu1035Ter) (rs1561650088)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708626 SCV000821775 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing This variant is a single amino acid change from Glutamate to a premature translational stop signal at codon 1035 of the RAD50 protein. This is expected to result in an absent or disrupted protein product. Truncating variants in RAD50 are known to be pathogenic (PMID: 19409520, 16385572).This variant has been described in the international literature in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747).

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