ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) (rs587780256)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000116175 SCV000186092 likely benign Hereditary cancer-predisposing syndrome 2017-09-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),In silico models in agreement (benign)
Color RCV000116175 SCV000691242 likely benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing
Counsyl RCV000199007 SCV000489891 uncertain significance Fanconi anemia, complementation group O 2016-07-11 criteria provided, single submitter clinical testing
Counsyl RCV000412269 SCV000489892 uncertain significance Breast-ovarian cancer, familial 3 2016-07-11 criteria provided, single submitter clinical testing
GeneDx RCV000417398 SCV000150084 likely benign not specified 2017-10-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000588889 SCV000699815 benign not provided 2016-03-07 criteria provided, single submitter clinical testing
Invitae RCV000199007 SCV000255189 uncertain significance Fanconi anemia, complementation group O 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 169 of the RAD51C protein (p.Val169Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs587780256, ExAC 0.03%). This variant has been reported in individuals with breast or ovarian cancer (PMID: 20400964, 22476429, 22370629, 21990120, 22538716), suspected Lynch syndrome (PMID: 25980754), familial chronic lymphocytic leukemia (PMID: 18203022), endometrial cancer (PMID: 27443514, 26689913), and glioma (PMID: 26689913). This variant is also known as 4150T>C in the literature. ClinVar contains an entry for this variant (Variation ID: 128206). In an experimental study, this variant behaved as wild-type in a complementation assay using RAD51C-deficient cells (PMID: 20400964). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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