ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.2546+5G>A (rs1060501401)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456865 SCV000546066 uncertain significance Charcot-Marie-Tooth disease type 4 2017-09-26 criteria provided, single submitter clinical testing This sequence change falls in intron 22 of the FIG4 gene. It does not directly change the encoded amino acid sequence of the FIG4 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide 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 novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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