ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.190A>T (p.Ile64Phe) (rs770335248)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565395 SCV000667116 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Color RCV000565395 SCV000905048 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-06 criteria provided, single submitter clinical testing
Invitae RCV000801716 SCV000941508 uncertain significance Fanconi anemia, complementation group O 2018-08-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with phenylalanine at codon 64 of the RAD51C protein (p.Ile64Phe). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and phenylalanine. This variant is present in population databases (rs770335248, ExAC 0.002%). This variant has not been reported in the literature in individuals with RAD51C-related disease. ClinVar contains an entry for this variant (Variation ID: 482168). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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