ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.624T>G (p.Ile208Met)

dbSNP: rs775006411
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
Sema4, Sema4 RCV002255829 SCV002529998 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-22 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003094198 SCV002988222 uncertain significance Fanconi anemia complementation group O 2021-12-23 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is present in population databases (rs775006411, gnomAD 0.0009%). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 208 of the RAD51C protein (p.Ile208Met).

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.