ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2707del (p.Arg903fs) (rs863224509)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196809 SCV000253894 pathogenic Hereditary cancer-predisposing syndrome 2017-02-15 criteria provided, single submitter clinical testing This sequence change deletes one nucleotide in exon 16 of the RAD50 mRNA (c.2707delA), causing a frameshift at codon 903. This creates a premature translational stop signal (p.Arg903Glufs*3) 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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