ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.851A>G (p.Asn284Ser)

dbSNP: rs1555602095
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
Invitae RCV000700122 SCV000828864 uncertain significance Fanconi anemia complementation group O 2018-05-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 284 of the RAD51C protein (p.Asn284Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. 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. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV002442493 SCV002681554 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-03 criteria provided, single submitter clinical testing The p.N284S variant (also known as c.851A>G), located in coding exon 6 of the RAD51C gene, results from an A to G substitution at nucleotide position 851. The asparagine at codon 284 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration 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.