ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) (rs149201802)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000205188 SCV000273485 pathogenic Hereditary cancer-predisposing syndrome 2017-04-19 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)
Counsyl RCV000411352 SCV000489273 pathogenic Nijmegen breakage syndrome-like disorder 2016-09-13 criteria provided, single submitter clinical testing
GeneKor MSA RCV000205188 SCV000821772 pathogenic Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000205188 SCV000261499 pathogenic Hereditary cancer-predisposing syndrome 2018-12-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr625*) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs149201802, ExAC 0.08%). This variant has been reported in the literature in individuals affected with pancreatic and breast cancer (PMID: 18281469, 25452441). ClinVar contains an entry for this variant (Variation ID: 220719). Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 19409520, 16385572). For these reasons, this variant has been classified as Pathogenic.

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