ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.803G>A (p.Trp268Ter) (rs750219200)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565505 SCV000663807 pathogenic Hereditary cancer-predisposing syndrome 2018-02-28 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)
Color RCV000565505 SCV000904085 likely pathogenic Hereditary cancer-predisposing syndrome 2018-05-09 criteria provided, single submitter clinical testing
GeneDx RCV000578790 SCV000680622 pathogenic not provided 2018-03-15 criteria provided, single submitter clinical testing This pathogenic variant is denoted RAD51D c.803G>A at the cDNA level and p.Trp268Ter (W268X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least two individuals with ovarian cancer (Loveday 2011, Thompson 2013). We consider it to be pathogenic.
Invitae RCV000475620 SCV000551339 pathogenic Breast-ovarian cancer, familial 4 2018-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp268*) in the RAD51D gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs750219200, ExAC 0.001%). This variant has been observed in two individuals affected with ovarian cancer (PMID: 21822267, 23372765). ClinVar contains an entry for this variant (Variation ID: 410552). 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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