ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.289C>T (p.Leu97Phe) (rs587777888)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205727 SCV000261028 uncertain significance Charcot-Marie-Tooth disease type 2E 2015-10-03 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 97 of the NEFL protein (p.Leu97Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. However, a pathogenic variant at an adjacent codon (c.293A>G / p.Asn98Ser) has been reported in individuals with Charcot-Marie-Tooth disease (PMID: 12477167, 12566280). ClinVar contains an entry for this variant (Variation ID: 155739). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143809 SCV000188702 non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Benign.

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