ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1052-2A>C (rs876660957)

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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 RCV000222834 SCV000278790 likely pathogenic Hereditary cancer-predisposing syndrome 2017-12-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Invitae RCV000222834 SCV000548025 likely pathogenic Hereditary cancer-predisposing syndrome 2017-11-06 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the RAD50 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RAD50-related disease. ClinVar contains an entry for this variant (Variation ID: 234249). In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in RAD50 are known to be pathogenic (PMID: 19409520, 16385572). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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