ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.292A>G (p.Lys98Glu)

dbSNP: rs1553141706
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518242 SCV000614090 uncertain significance not specified 2016-09-12 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV000790050 SCV001337444 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001360038 SCV001555933 likely pathogenic Charcot-Marie-Tooth disease type 2 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 98 of the MFN2 protein (p.Lys98Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of autosomal dominant MFN2-related conditions (PMID: 18957892, 32376792; Invitae). ClinVar contains an entry for this variant (Variation ID: 447723). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MFN2 protein function with a positive predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Inherited Neuropathy Consortium RCV000790050 SCV000929440 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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