ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.702C>G (p.Asp234Glu)

gnomAD frequency: 0.00006  dbSNP: rs148149640
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 RCV000794786 SCV000934216 uncertain significance Familial acute necrotizing encephalopathy 2020-10-29 criteria provided, single submitter clinical testing 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 C35"). This variant has not been reported in the literature in individuals with RANBP2-related disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces aspartic acid with glutamic acid at codon 234 of the RANBP2 protein (p.Asp234Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid.
Ambry Genetics RCV004027504 SCV004934420 uncertain significance not specified 2022-01-03 criteria provided, single submitter clinical testing The c.702C>G (p.D234E) alteration is located in exon 6 (coding exon 6) of the RANBP2 gene. This alteration results from a C to G substitution at nucleotide position 702, causing the aspartic acid (D) at amino acid position 234 to be replaced by a glutamic acid (E). 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.