ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.3384T>G (p.Ser1128Arg)

gnomAD frequency: 0.00002  dbSNP: rs771199260
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 RCV001068306 SCV001233411 uncertain significance Familial acute necrotizing encephalopathy 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 1128 of the RANBP2 protein (p.Ser1128Arg). 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: "Benign"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 861725). This variant has not been reported in the literature in individuals affected with RANBP2-related conditions. This variant is present in population databases (rs771199260, gnomAD 0.02%).
Ambry Genetics RCV004030670 SCV003535773 uncertain significance not specified 2022-08-26 criteria provided, single submitter clinical testing The c.3384T>G (p.S1128R) alteration is located in exon 20 (coding exon 20) of the RANBP2 gene. This alteration results from a T to G substitution at nucleotide position 3384, causing the serine (S) at amino acid position 1128 to be replaced by an arginine (R). 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.