ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.825GCA[3] (p.Gln276dup) (rs1553143791)

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
Invitae RCV000468456 SCV000547937 uncertain significance Charcot-Marie-Tooth disease, type 2 2019-10-23 criteria provided, single submitter clinical testing This variant, c.828_830dup, results in the insertion of 1 amino acid to the MFN2 protein (p.Gln276dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with hereditary motor and sensory neuropathy (PMID: 28708278). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.
GeneDx RCV000484543 SCV000568975 likely pathogenic not provided 2016-07-09 criteria provided, single submitter clinical testing A novel c.828_830dupGCA variant that is likely pathogenic has been identified in the MFN2 gene. Thec.828_830dupGCA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.828_830dupGCA variant results in an in-frame duplication of a single Glutamine residue, denotedp.Gln276dup. This in-frame duplication is predicted to be within the GTPase domain of the MFN2 protein (Choi et al., 2015). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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.