ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.109G>C (p.Glu37Gln)

dbSNP: rs876659848
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220747 SCV000276740 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-28 criteria provided, single submitter clinical testing The p.E37Q variant (also known as c.109G>C), located in coding exon 2 of the RAD51D gene, results from a G to C substitution at nucleotide position 109. The glutamic acid at codon 37 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000552277 SCV000651712 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2023-10-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 37 of the RAD51D protein (p.Glu37Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 232574). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Mendelics RCV000709454 SCV000839198 uncertain significance Hereditary breast ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV000552277 SCV004200353 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 4 2023-09-20 criteria provided, single submitter clinical testing

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.