ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.2258T>C (p.Leu753Pro)

dbSNP: rs1639699426
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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 RCV001036863 SCV001200249 uncertain significance Charcot-Marie-Tooth disease type 2 2024-10-18 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 753 of the MFN2 protein (p.Leu753Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of autosomal dominant Charcot-Marie-Tooth disease (internal data). ClinVar contains an entry for this variant (Variation ID: 835870). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt MFN2 protein function with a positive predictive value of 95%. 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.

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