ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.285G>C (p.Arg95Ser)

dbSNP: rs1553141686
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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 RCV000543497 SCV000657722 pathogenic Charcot-Marie-Tooth disease type 2 2023-07-17 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 95 of the MFN2 protein (p.Arg95Ser). ClinVar contains an entry for this variant (Variation ID: 476770). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg95 amino acid residue in MFN2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 30642740; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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