ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp)

gnomAD frequency: 0.00001  dbSNP: rs368370291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002256559 SCV002526737 uncertain significance Charcot-Marie-Tooth disease type 2E 2022-06-01 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM1, PM2_SUP
Labcorp Genetics (formerly Invitae), Labcorp RCV002256559 SCV003446708 uncertain significance Charcot-Marie-Tooth disease type 2E 2024-03-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 346 of the NEFL protein (p.Ala346Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NEFL-related conditions. ClinVar contains an entry for this variant (Variation ID: 695003). 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 with a negative predictive value of 80%. 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.
Genesis Genome Database RCV000857198 SCV000999780 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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