ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr) (rs539341386)

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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 RCV000573418 SCV000663754 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000573418 SCV000686379 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-25 criteria provided, single submitter clinical testing
Counsyl RCV000234057 SCV000489903 uncertain significance Fanconi anemia, complementation group O 2016-07-25 criteria provided, single submitter clinical testing
Counsyl RCV000409453 SCV000489904 uncertain significance Breast-ovarian cancer, familial 3 2016-07-25 criteria provided, single submitter clinical testing
Invitae RCV000234057 SCV000291243 uncertain significance Fanconi anemia, complementation group O 2017-05-15 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 240 of the RAD51C protein (p.Ile240Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs539341386, ExAC 0.009%) but has not been reported in the literature in individuals with a RAD51C-related disease. ClinVar contains an entry for this variant (Variation ID: 241777). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Mendelics RCV000709510 SCV000839334 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing

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