ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.1749_1750+7del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215143 SCV001386871 likely pathogenic Charcot-Marie-Tooth disease type 4 2019-05-06 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 15 of the FIG4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with FIG4-related conditions. Loss-of-function variants in FIG4 are known to be pathogenic (PMID: 23623387). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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