ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.855G>T (p.Gln285His) (rs876660369)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217897 SCV000277744 uncertain significance Hereditary cancer-predisposing syndrome 2015-08-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000686868 SCV000814407 uncertain significance Fanconi anemia, complementation group O 2018-06-01 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 285 of the RAD51C protein (p.Gln285His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. 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. ClinVar contains an entry for this variant (Variation ID: 233383). 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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