ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.136C>A (p.Leu46Ile)

dbSNP: rs1423724305
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531633 SCV000650007 uncertain significance Fanconi anemia complementation group O 2017-03-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 46 of the RAD51C protein (p.Leu46Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is not present in population databases (ExAC no frequency) and 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant 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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