ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val) (rs758246840)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416279 SCV000493452 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000516502 SCV000613149 uncertain significance not specified 2016-11-11 criteria provided, single submitter clinical testing
Invitae RCV000641098 SCV000762720 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2017-10-25 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 486 of the DNM2 protein (p.Ile486Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs758246840, ExAC 0.006%). This variant has not been reported in the literature in individuals with DNM2-related disease. ClinVar contains an entry for this variant (Variation ID: 374611). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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.