ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.2249_2250del (p.His750fs)

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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 RCV003030071 SCV003334057 pathogenic Charcot-Marie-Tooth disease type 2 2024-06-10 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the MFN2 gene (p.His750Profs*12). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 8 amino acid(s) of the MFN2 protein and extend the protein by 3 additional amino acid residues. 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.Gln751*) have been determined to be pathogenic (PMID: 16714318). 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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