ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.720C>G (p.Phe240Leu) (rs864622480)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000502695 SCV000598141 likely pathogenic Hereditary motor and sensory neuropathy with optic atrophy 2016-12-06 criteria provided, single submitter clinical testing This variant was found in a patient diagnosed with complex Charcot Marie Tooth disease and optic atrophy. The patient harbours a large duplication in the CMT1A region, in addition to this variant in MFN2 gene. The identification of these two mutations explains the complex phenotype of this patient.

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.