ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.235A>G (p.Ile79Val)

gnomAD frequency: 0.00001  dbSNP: rs765260132
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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 RCV001172734 SCV001335800 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV003514468 SCV004344007 uncertain significance Charcot-Marie-Tooth disease type 2E 2023-05-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 79 of the NEFL protein (p.Ile79Val). This variant is present in population databases (rs765260132, gnomAD 0.003%). 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 NEFL protein function. ClinVar contains an entry for this variant (Variation ID: 916806). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 32376792).

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