ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg)

dbSNP: rs879254329
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000235722 SCV000294251 likely pathogenic Fanconi anemia 2016-08-24 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 79 of the FANCB protein (p.Cys79Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change that has been observed in an individual with Fanconi anemia. However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. This variant has not been reported in the literature in individuals with a FANCB-related disease. However, this variant has been shown to arise de novo in an individual affected with Fanconi anemia (Invitae database).

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.