ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8422T>C (p.Cys2808Arg)

dbSNP: rs1597883056
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000800358 SCV000940068 uncertain significance Neurofibromatosis, type 1 2021-03-09 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an NF1-related disease. This sequence change replaces cysteine with arginine at codon 2787 of the NF1 protein (p.Cys2787Arg). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and arginine.
Baylor Genetics RCV003461122 SCV004198278 uncertain significance Juvenile myelomonocytic leukemia 2023-10-03 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.