ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2026G>T (p.Glu676Ter) (rs773761143)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567152 SCV000674638 pathogenic Hereditary cancer-predisposing syndrome 2016-06-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000567152 SCV000946274 pathogenic Hereditary cancer-predisposing syndrome 2018-10-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu676*) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs773761143, ExAC 0.05%). This variant has not been reported in the literature in individuals with RAD50-related disease. ClinVar contains an entry for this variant (Variation ID: 486238). Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). For these reasons, this variant has been classified as Pathogenic.

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