ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.4830G>C (p.Trp1610Cys)

gnomAD frequency: 0.00006  dbSNP: rs201397627
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 RCV001044945 SCV001208769 uncertain significance Familial acute necrotizing encephalopathy 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 1610 of the RANBP2 protein (p.Trp1610Cys). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 842516). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs201397627, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant.
Breakthrough Genomics, Breakthrough Genomics RCV004693501 SCV005187849 uncertain significance not provided criteria provided, single submitter not provided

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.