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
Invitae RCV000234057 SCV000291243 uncertain significance Fanconi anemia, complementation group O 2019-11-24 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%). This variant has not been reported in the literature in individuals with RAD51C-related conditions. 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 and their clinical significance is uncertain. 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.
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
Ambry Genetics RCV000573418 SCV000663754 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-13 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Color RCV000573418 SCV000686379 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-03 criteria provided, single submitter clinical testing
Mendelics RCV000709510 SCV000839334 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing

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