ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.1216A>G (p.Ile406Val)

gnomAD frequency: 0.00002  dbSNP: rs1251336337
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 RCV000691111 SCV000818854 uncertain significance Familial acute necrotizing encephalopathy 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 406 of the RANBP2 protein (p.Ile406Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. 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: "Benign"; Align-GVGD: "Class C25"). 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.
Ambry Genetics RCV004025071 SCV003657594 uncertain significance not specified 2022-11-08 criteria provided, single submitter clinical testing The c.1216A>G (p.I406V) alteration is located in exon 9 (coding exon 9) of the RANBP2 gene. This alteration results from a A to G substitution at nucleotide position 1216, causing the isoleucine (I) at amino acid position 406 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.