ClinVar Miner

Submissions for variant NM_005391.4(PDK3):c.597del (p.Asp199fs) (rs1569225940)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686477 SCV000813996 uncertain significance Charcot-Marie-Tooth disease, X-linked dominant, 6 2018-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp199Glufs*16) in the PDK3 gene. It is expected to result 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 PDK3-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PDK3 cause disease. 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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