ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3067_3070del (p.Leu1022_Thr1023insTer) (rs1554099781)

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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 RCV000548794 SCV000663738 pathogenic Hereditary cancer-predisposing syndrome 2017-03-30 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 RCV000548794 SCV000628242 pathogenic Hereditary cancer-predisposing syndrome 2017-02-27 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 20 of the RAD50 mRNA (c.3067_3070delACTT), causing a frameshift at codon 1023. This creates a premature translational stop signal (p.Thr1023*) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, 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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