ClinVar Miner

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

gnomAD frequency: 0.00221  dbSNP: rs41278630
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Total submissions: 16
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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

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