ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.904-2A>T (rs1403784434)

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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 RCV000562807 SCV000674697 likely pathogenic Hereditary cancer-predisposing syndrome 2018-04-19 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
Color RCV000562807 SCV000686499 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-05 criteria provided, single submitter clinical testing
Invitae RCV000540056 SCV000651794 likely pathogenic Breast-ovarian cancer, familial 4 2017-04-16 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 9 of the RAD51D gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a RAD51D-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in RAD51D are known to be pathogenic (PMID: 21822267). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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