ClinVar Miner

Submissions for variant NM_005391.5(PDK3):c.608C>G (p.Thr203Arg)

dbSNP: rs1555949588
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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 RCV000651316 SCV000773167 uncertain significance Charcot-Marie-Tooth disease X-linked dominant 6 2017-08-06 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 sequence change replaces threonine with arginine at codon 203 of the PDK3 protein (p.Thr203Arg). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is not present in population databases (ExAC no frequency).

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