ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.94dup (p.Thr32fs) (rs587781625)

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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 RCV000129727 SCV000184532 pathogenic Hereditary cancer-predisposing syndrome 2013-09-17 criteria provided, single submitter clinical testing
Invitae RCV000129727 SCV000253896 pathogenic Hereditary cancer-predisposing syndrome 2018-12-19 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 1 of the RAD50 mRNA (c.94dupA), causing a frameshift at codon 32. This creates a premature translational stop signal (p.Thr32Asnfs*16) 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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