ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.1046C>T (p.Thr349Ile) (rs776823687)

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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 RCV000566321 SCV000663787 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Invitae RCV000688906 SCV000816535 uncertain significance Fanconi anemia, complementation group O 2018-05-21 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 349 of the RAD51C protein (p.Thr349Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs776823687, ExAC 0.02%). This variant has not been reported in the literature in individuals with RAD51C-related disease. ClinVar contains an entry for this variant (Variation ID: 480507). 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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