ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.19G>A (p.Glu7Lys)

gnomAD frequency: 0.00001  dbSNP: rs57848467
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005055556 SCV005691981 uncertain significance Charcot-Marie-Tooth disease type 2E 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 7 of the NEFL protein (p.Glu7Lys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with autosomal dominant Charcot-Marie-Tooth disease (PMID: 12566280). ClinVar contains an entry for this variant (Variation ID: 66684). Invitae Evidence 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 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 NEFL 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.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057126 SCV000088239 not provided not provided no assertion provided not provided
Inherited Neuropathy Consortium RCV000789662 SCV000929035 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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