ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.1693G>A (p.Ala565Thr)

dbSNP: rs1639388309
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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 RCV001323021 SCV001513918 uncertain significance Charcot-Marie-Tooth disease type 2 2020-10-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals 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 not 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 (ExAC no frequency). This sequence change replaces alanine with threonine at codon 565 of the MFN2 protein (p.Ala565Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.

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