ClinVar Miner

Submissions for variant NM_021922.2(FANCE):c.1111C>T (p.Arg371Trp) (rs775076977)

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 RCV000686258 SCV000813768 likely pathogenic Fanconi anemia, complementation group E 2019-12-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 371 of the FANCE protein (p.Arg371Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs775076977, ExAC 0.03%). This variant has been observed as homozygous in several individuals affected with Fanconi anemia (PMID: 17924555, 22778927), as well as an individual affected with head and neck squamous cell carcinoma (PMID: 28678401). ClinVar contains an entry for this variant (Variation ID: 566449). Experimental studies have shown that this missense change in FANCE disrupts FANCD2 binding in yeast (PMID: 17308347). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Leiden Open Variation Database RCV000686258 SCV001364609 pathogenic Fanconi anemia, complementation group E 2012-04-08 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Johan de Winter.

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.