ClinVar Miner

Submissions for variant NC_000012.12:g.(?_32576256)_(32640543_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001032469 SCV001195776 pathogenic Charcot-Marie-Tooth disease type 4 2019-10-24 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the FGD4 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has been observed in combination with another FGD4 variant in an individual affected with Charcot-Marie-Tooth disease (PMID: 28902413). Loss-of-function variants in FGD4 are known to be pathogenic (PMID: 17564972). For these reasons, this variant has been classified as Pathogenic.

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