ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.1833_1902+238delinsGGAGG

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052182 SCV001216379 likely pathogenic Charcot-Marie-Tooth disease type 4 2019-11-19 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 15 (c.1833_1902+238delinsGGAGG) of the FGD4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FGD4-related conditions. Loss-of-function variants in FGD4 are known to be pathogenic (PMID: 17564972). 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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