ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.1858G>A (p.Val620Ile)

gnomAD frequency: 0.00001  dbSNP: rs200936779
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 RCV000653849 SCV000775739 uncertain significance Charcot-Marie-Tooth disease type 2 2018-10-05 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MFN2-related disease. This variant is present in population databases (rs200936779, ExAC 0.02%). This sequence change replaces valine with isoleucine at codon 620 of the MFN2 protein (p.Val620Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197240 SCV001367877 uncertain significance Hereditary motor and sensory neuropathy with optic atrophy 2019-02-12 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.

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.