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

Total submissions: 6

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].