ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.1044G>A (p.Gln348=) (rs1234285997)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812095 SCV000952399 uncertain significance Charcot-Marie-Tooth disease type 2E 2018-11-06 criteria provided, single submitter clinical testing This sequence change affects codon 348 of the NEFL mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NEFL protein. This variant also falls at the last nucleotide of exon 1 of the NEFL coding sequence, which is part of the consensus splice site for this exon. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NEFL-related disease. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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