ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.33G>C (p.Gln11His)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003618508 SCV004491992 uncertain significance Fanconi anemia complementation group O 2022-12-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 11 of the RAD51C protein (p.Gln11His). This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with RAD51C-related conditions.
Ambry Genetics RCV004673943 SCV005159519 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-04 criteria provided, single submitter clinical testing The p.Q11H variant (also known as c.33G>C), located in coding exon 1 of the RAD51C gene, results from a G to C substitution at nucleotide position 33. The glutamine at codon 11 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.