ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.191T>C (p.Ile64Thr)

dbSNP: rs1555593511
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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 RCV000648238 SCV000770052 uncertain significance Fanconi anemia complementation group O 2017-08-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with RAD51C-related disease. 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. 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: "Benign"; Align-GVGD: "Class C25"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 64 of the RAD51C protein (p.Ile64Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine.

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