ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr) (rs121912629)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229599 SCV001402050 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-25 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the RAD50 mRNA. It is expected to extend the length of the RAD50 protein by 66 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Nijmegen breakage syndrome-like disorder (PMID: 19409520). ClinVar contains an entry for this variant (Variation ID: 5873). 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.
OMIM RCV000006231 SCV000026413 pathogenic Nijmegen breakage syndrome-like disorder 2009-05-01 no assertion criteria provided literature only

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