ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.769C>G (p.Leu257Val) (rs750551012)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000223013 SCV000276354 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or Conflicting Evidence
Invitae RCV000555322 SCV000650023 uncertain significance Fanconi anemia, complementation group O 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 257 of the RAD51C protein (p.Leu257Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs750551012, ExAC 0.01%) but has not been reported in the literature in individuals with a RAD51C-related disease. 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect 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.

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