ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.443T>C (p.Phe148Ser) (rs864622580)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206132 SCV000261193 uncertain significance Fanconi anemia, complementation group O 2015-10-14 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 148 of the RAD51C protein (p.Phe148Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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