ClinVar Miner

Submissions for variant NM_033084.5(FANCD2):c.2613A>C (p.Lys871Asn) (rs56041034)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000383944 SCV000439593 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000383944 SCV000547218 uncertain significance Fanconi anemia 2018-05-16 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 871 of the FANCD2 protein (p.Lys871Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with FANCD2-related disease. ClinVar contains an entry for this variant (Variation ID: 342370). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Genetic Services Laboratory, University of Chicago RCV000504499 SCV000594691 uncertain significance not specified 2016-03-14 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.