ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) (rs876659874)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221970 SCV000276789 pathogenic Hereditary cancer-predisposing syndrome 2017-03-25 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000236899 SCV000292754 pathogenic not provided 2017-09-28 criteria provided, single submitter clinical testing This variant is denoted RAD51C c.914G>A at the cDNA level and p.Trp305Ter (W305X) 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. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Invitae RCV000541903 SCV000660370 pathogenic Fanconi anemia, complementation group O 2019-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp305*) in the RAD51C 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 not been reported in the literature in individuals with RAD51C-related disease. ClinVar contains an entry for this variant (Variation ID: 232614). Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000662608 SCV000785253 likely pathogenic Breast-ovarian cancer, familial 3; Fanconi anemia, complementation group O 2017-06-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000236899 SCV001134794 pathogenic not provided 2019-06-04 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity.
Color RCV000221970 SCV001349956 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing

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