Submissions for variant NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)

gnomAD frequency: 0.00621  dbSNP: rs142271930

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126754	SCV000170267	benign	not specified	2013-11-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227305	SCV000290027	benign	Charcot-Marie-Tooth disease type 2	2025-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000227305	SCV000348003	benign	Charcot-Marie-Tooth disease type 2	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000711273	SCV000604223	benign	not provided	2023-11-17	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711273	SCV000841609	benign	not provided	2018-03-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000126754	SCV000862577	benign	not specified	2018-08-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001101762	SCV001258400	benign	Hereditary motor and sensory neuropathy with optic atrophy	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173010	SCV001336085	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000711273	SCV001502499	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	MFN2: BS2
Fulgent Genetics, Fulgent Genetics	RCV002492476	SCV002798097	benign	Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A	2022-02-23	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000711273	SCV005259865	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000126754	SCV001921246	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000126754	SCV001958909	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000711273	SCV001974512	likely benign	not provided		no assertion criteria provided	clinical testing