ClinVar Miner

Submissions for variant NM_001142386.3(PDK3):c.1126G>A (p.Ala376Thr) (rs781166988)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688385 SCV000815995 uncertain significance Charcot-Marie-Tooth disease, X-linked dominant, 6 2018-09-25 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 376 of the PDK3 protein (p.Ala376Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs781166988, ExAC 0.01%). This variant has not been reported in the literature in individuals with PDK3-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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