ClinVar Miner

Submissions for variant NM_005391.5(PDK3):c.422C>T (p.Pro141Leu)

gnomAD frequency: 0.00006  dbSNP: rs898354567
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214596 SCV001386282 uncertain significance Charcot-Marie-Tooth disease X-linked dominant 6 2022-03-02 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. 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. ClinVar contains an entry for this variant (Variation ID: 944239). This variant has not been reported in the literature in individuals affected with PDK3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%), including at least one homozygous and/or hemizygous individual. This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 141 of the PDK3 protein (p.Pro141Leu).
Mayo Clinic Laboratories, Mayo Clinic RCV001508955 SCV001715404 uncertain significance not provided 2020-04-07 criteria provided, single submitter clinical testing

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