ClinVar Miner

Submissions for variant NM_014874.3(MFN2):c.1987C>T (p.Arg663Cys) (rs369762154)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197786 SCV000251721 uncertain significance not provided 2021-04-19 criteria provided, single submitter clinical testing Previously reported in a pediatric patient with an atypical phenotype including acute neurological failure and deafness; the variant was also identified in his mother who was reported to have a toe-walking gait (DiMeglio et al., 2015).; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27582484, 26686600, 29625556, 30340945, 31108397, 33415332)
Invitae RCV001087905 SCV000657719 likely benign Charcot-Marie-Tooth disease, type 2 2020-10-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001101761 SCV001258398 uncertain significance Hereditary motor and sensory neuropathy with optic atrophy 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001087905 SCV001258399 benign Charcot-Marie-Tooth disease, type 2 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit,IRCCS Fondazione Stella Maris RCV001335680 SCV001519156 likely pathogenic Charcot-Marie-Tooth disease, type 2A2A 2021-07-12 criteria provided, single submitter research
Baylor Genetics RCV001335680 SCV001528901 uncertain significance Charcot-Marie-Tooth disease, type 2A2A 2018-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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.