ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.866T>C (p.Leu289Pro)

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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 RCV002295210 SCV002595027 uncertain significance Charcot-Marie-Tooth disease type 2 2022-10-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MFN2-related conditions. 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 289 of the MFN2 protein (p.Leu289Pro).

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