Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177318 | SCV000229165 | uncertain significance | not provided | 2015-03-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000645438 | SCV000767183 | uncertain significance | Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C | 2022-08-10 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 25 of the PLEKHG5 protein (p.Arg25Trp). This variant is present in population databases (rs377503203, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions. ClinVar contains an entry for this variant (Variation ID: 196499). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; 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. |
Ce |
RCV000177318 | SCV001147081 | uncertain significance | not provided | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000177318 | SCV004227740 | uncertain significance | not provided | 2022-08-04 | criteria provided, single submitter | clinical testing | PM2 |