ClinVar Miner

Submissions for variant NC_000023.11:g.(?_24494722)_(24539184_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000708295 SCV000837405 uncertain significance Charcot-Marie-Tooth disease X-linked dominant 6 2018-01-24 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with PDK3-related disease. This variant is a gross deletion of the genomic region encompassing exons 2-12 of the PDK3 gene. The 5' boundary is likely confined to intron 1. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation.

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