ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.366A>C (p.Glu122Asp)

dbSNP: rs2143726420
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706752 SCV001934221 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 3 2020-10-06 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238377 SCV002011055 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163797 SCV003861268 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-04 criteria provided, single submitter clinical testing The p.E122D variant (also known as c.366A>C), located in coding exon 2 of the RAD51C gene, results from an A to C substitution at nucleotide position 366. The glutamic acid at codon 122 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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