ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV002474428 SCV002771037 uncertain significance not provided 2021-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002571525 SCV003517347 uncertain significance Charcot-Marie-Tooth disease type 2 2024-10-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 707 of the MFN2 protein (p.Arg707Gln). This variant is present in population databases (rs375937289, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MFN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1806999). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MFN2 protein function with a negative predictive value of 80%. This variant disrupts the p.Arg707 amino acid residue in MFN2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 18458227, 20008656, 26114802). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Baylor Genetics RCV003333221 SCV004040641 uncertain significance Neuropathy, hereditary motor and sensory, type 6A 2023-06-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333219 SCV004040704 uncertain significance Charcot-Marie-Tooth disease type 2A2 2023-06-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333220 SCV004040719 uncertain significance Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 2023-06-29 criteria provided, single submitter clinical testing

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.