ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.1261C>A (p.Arg421=) (rs191346286)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526896 SCV000639654 uncertain significance Charcot-Marie-Tooth disease type 2E 2017-03-24 criteria provided, single submitter clinical testing This sequence change affects codon 421 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 is present in population databases (rs191346286, ExAC 0.07%) but has not been reported in the literature in individuals with an NEFL-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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