ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.470T>G (p.Phe157Cys)

dbSNP: rs1555594699
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000534945 SCV000660364 uncertain significance Fanconi anemia complementation group O 2017-02-15 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with cysteine at codon 157 of the RAD51C protein (p.Phe157Cys). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and cysteine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. 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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