ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.311G>A (p.Cys104Tyr)

dbSNP: rs1598456075
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793721 SCV000933088 uncertain significance Fanconi anemia complementation group O 2018-12-18 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RAD51C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tyrosine at codon 104 of the RAD51C protein (p.Cys104Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine.

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