ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.701T>A (p.Met234Lys)

dbSNP: rs1639047697
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
Human Genetics Unit, University Of Colombo RCV001256669 SCV001424765 likely pathogenic Charcot-Marie-Tooth disease type 2A2 2018-10-17 criteria provided, single submitter clinical testing The Met234Lys variant in MFN2 gene has been reported in a Sri Lankan patient diagnosed with hereditary motor and sensory neuropathy (Hettiaracchchi, n.d.). This mutation is not found in global population frequency databases or in our internal exome database. This variant is located in an area of the MFN2 gene that is highly conserved in different species of animals during evolution and it causes a non-conservative substitution of amino acids. In silico analysis concluded this variant as disease-causing. According to ACMG criteria (2015), this variant can be classified as likely pathogenic.

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.