ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.234A>G (p.Thr78=) (rs730881929)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212937 SCV000211625 uncertain significance not provided 2018-12-05 criteria provided, single submitter clinical testing This variant is denoted RAD51C c.234A>G at the DNA level. It is silent at the coding level, preserving a Threonine at codon 78. In silico analyses, which include splice predictors and evolutionary conservation, are inconsistent in their assessment as to whether or not the variant is damaging. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. RAD51C c.234A>G was not observed at a significant allele frequency in large population cohorts (Lek 2016). Based on currently available information, it is unclear whether RAD51C c.234A>G is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000160921 SCV000213693 likely benign Hereditary cancer-predisposing syndrome 2014-12-15 criteria provided, single submitter clinical testing
Invitae RCV000477301 SCV000550200 uncertain significance Fanconi anemia, complementation group O 2017-11-02 criteria provided, single submitter clinical testing This sequence change affects codon 78 of the RAD51C mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RAD51C protein. This variant is present in population databases (rs730881929, ExAC 0.001%). This variant has not been reported in the literature in individuals with RAD51C-related disease. ClinVar contains an entry for this variant (Variation ID: 182833). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Counsyl RCV000663292 SCV000786534 likely benign Breast-ovarian cancer, familial 3; Fanconi anemia, complementation group O 2018-05-18 criteria provided, single submitter clinical testing

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