ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.650G>T (p.Cys217Phe)

dbSNP: rs1569842458
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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 RCV000821854 SCV000962626 pathogenic Charcot-Marie-Tooth disease type 2 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 217 of the MFN2 protein (p.Cys217Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant Charcot-Marie-Tooth disease (PMID: 26801520, 28810241, 35994048). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 663885). 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%. For these reasons, this variant has been classified as Pathogenic.

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