ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.2460-8A>G (rs201965891)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711654 SCV000842041 uncertain significance not provided 2018-03-26 criteria provided, single submitter clinical testing
Invitae RCV000526033 SCV000657861 uncertain significance Charcot-Marie-Tooth disease type 4 2017-06-22 criteria provided, single submitter clinical testing This sequence change falls in intron 21 of the FIG4 gene. It does not directly change the encoded amino acid sequence of the FIG4 protein. This variant is present in population databases (rs201965891, ExAC 0.001%). This variant has not been reported in the literature in individuals with a FIG4-related disease. 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, this variant has uncertain impact on FIG4 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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