ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.482A>T (p.Glu161Val) (rs1555594725)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588111 SCV000699812 uncertain significance not provided 2016-08-24 criteria provided, single submitter clinical testing Variant summary: The c.482A>T (p.Glu161Val) in RAD51C gene is a missense change that involves a highly conserved nucleotide and 4/5 in silico tools predict damaging outcome. The variant of interest is located within a functional domain required for DNA recombination, and mutations in this region found in HBOC pts were presumably associated with RAD51C-mediated breast and ovarian cancer. The variant is absent from the control population dataset of ExAC and has not, to our knowledge, been reported in affected individuals via published reports or by reputable databases/clinical laboratories. Taking together, the variant was classified as VUS.
Invitae RCV000648259 SCV000770073 uncertain significance Fanconi anemia, complementation group O 2018-10-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 161 of the RAD51C protein (p.Glu161Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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