Total submissions: 2
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, |
RCV001508955 | SCV001715404 | uncertain significance | not provided | 2020-04-07 | criteria provided, single submitter | clinical testing |