ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.1A>C (p.Met1Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232509 SCV001405071 uncertain significance Charcot-Marie-Tooth disease type 4 2019-09-23 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the FIG4 mRNA. The next in-frame methionine is located at codon 78. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FIG4-related conditions. 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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