Submissions for variant NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)

gnomAD frequency: 0.00221  dbSNP: rs41278630

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180646	SCV000233125	likely benign	not specified	2014-12-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000658493	SCV000251729	likely benign	not provided	2021-06-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27582484, 26143526, 16043786, 24450158, 22492563, 19889647)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205710	SCV000260582	benign	Charcot-Marie-Tooth disease type 2	2025-02-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000180646	SCV000312239	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000321170	SCV000347980	likely benign	Hereditary motor and sensory neuropathy with optic atrophy	2017-04-27	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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000205710	SCV000347981	likely benign	Charcot-Marie-Tooth disease type 2	2017-04-27	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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000658493	SCV000780261	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	MFN2: BS2
Mendelics	RCV000986246	SCV001135181	likely benign	Charcot-Marie-Tooth disease type 2A2	2019-05-28	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172690	SCV001335756	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000658493	SCV001470954	likely benign	not provided	2022-03-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002444723	SCV002682046	likely benign	Inborn genetic diseases	2019-09-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002492791	SCV002801687	likely benign	Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A	2021-11-21	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000180646	SCV001918605	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000658493	SCV001965051	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000180646	SCV001978161	benign	not specified		no assertion criteria provided	clinical testing
Solve-RD Consortium	RCV000986246	SCV005091378	likely pathogenic	Charcot-Marie-Tooth disease type 2A2	2022-06-01	no assertion criteria provided	provider interpretation	Variant confirmed as disease-causing by referring clinical team