ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.361A>G (p.Thr121Ala) (rs969395239)

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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 RCV000567757 SCV000671914 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence
Color RCV000567757 SCV000686347 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-15 criteria provided, single submitter clinical testing
Invitae RCV000533720 SCV000660413 uncertain significance Fanconi anemia, complementation group O 2018-04-13 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 121 of the RAD51C protein (p.Thr121Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. 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: 478778). 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 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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