ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.561dup (p.Ala188fs) (rs876659005)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000226081 SCV000274945 pathogenic Hereditary cancer-predisposing syndrome 2019-03-19 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000226081 SCV000289074 pathogenic Hereditary cancer-predisposing syndrome 2019-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala188Serfs*30) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 231180). Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000411533 SCV000489565 likely pathogenic Nijmegen breakage syndrome-like disorder 2016-10-26 criteria provided, single submitter clinical testing

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