ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.946A>G (p.Lys316Glu)

gnomAD frequency: 0.00001  dbSNP: rs1424551887
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174301 SCV001337433 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002557498 SCV003257505 uncertain significance Charcot-Marie-Tooth disease type 2 2023-05-14 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MFN2 protein function. ClinVar contains an entry for this variant (Variation ID: 917365). This missense change has been observed in individual(s) with MFN2-related conditions (PMID: 32376792). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 316 of the MFN2 protein (p.Lys316Glu).

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