ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.2661dup (p.Gln888fs) (rs778839285)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823790 SCV000964660 uncertain significance Charcot-Marie-Tooth disease type 4 2018-10-16 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the FIG4 gene (p.Gln888Alafs*34). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20 amino acids of the FIG4 protein and extend the protein by an additional 14 amino acids. This variant is present in population databases (rs778839285, ExAC 0.03%). This variant has not been reported in the literature in individuals with FIG4-related disease. 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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