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 2017-11-30 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)
Counsyl RCV000411533 SCV000489565 likely pathogenic Nijmegen breakage syndrome-like disorder 2016-10-26 criteria provided, single submitter clinical testing
Invitae RCV000226081 SCV000289074 pathogenic Hereditary cancer-predisposing syndrome 2018-10-18 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 5 of the RAD50 mRNA (c.561dupA), causing a frameshift at codon 188. This creates a premature translational stop signal (p.Ala188Serfs*30) 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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