ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.821_826del (p.Arg274_Arg275del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005140937 SCV005761626 pathogenic Charcot-Marie-Tooth disease type 2 2024-08-15 criteria provided, single submitter clinical testing This variant, c.821_826del, results in the deletion of 2 amino acid(s) of the MFN2 protein (p.Arg274_Arg275del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MFN2-related conditions. This variant disrupts a region of the MFN2 protein in which other variant(s) (p.Arg274Trp) have been determined to be pathogenic (PMID: 26581383). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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