ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.605A>G (p.Asp202Gly) (rs1060502591)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471166 SCV000550205 uncertain significance Fanconi anemia, complementation group O 2018-07-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 202 of the RAD51C protein (p.Asp202Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 26976419). 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. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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