ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.1284G>T (p.Arg428Ser)

dbSNP: rs2100847602
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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 RCV001955580 SCV002220342 uncertain significance Charcot-Marie-Tooth disease type 2 2021-08-27 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt MFN2 protein function. This variant has not been reported in the literature in individuals affected with MFN2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 428 of the MFN2 protein (p.Arg428Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine.

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