ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.94_95del (p.Val32fs) (rs786203137)

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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 RCV000166313 SCV000217098 pathogenic Hereditary cancer-predisposing syndrome 2017-07-07 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 RCV000469049 SCV000677819 likely pathogenic Breast-ovarian cancer, familial 4 2017-03-08 criteria provided, single submitter clinical testing
Invitae RCV000469049 SCV000551378 pathogenic Breast-ovarian cancer, familial 4 2018-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val32Phefs*38) in the RAD51D gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in one family affected with breast cancer (PMID: 27913932). ClinVar contains an entry for this variant (Variation ID: 186680). Loss-of-function variants in RAD51D are known to be pathogenic (PMID: 21822267). For these reasons, this variant has been classified as Pathogenic.

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