ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.161A>C (p.Lys54Thr) (rs587782296)

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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 RCV000131179 SCV000186126 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient or conflicting evidence
Invitae RCV000802417 SCV000942248 uncertain significance Fanconi anemia, complementation group O 2018-07-27 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 54 of the RAD51C protein (p.Lys54Thr). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and threonine. 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: 142192). 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 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.

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