Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000645536 | SCV000767284 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2C | 2017-09-28 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 56 of the TRPV4 protein (p.Arg56His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs767169716, ExAC 0.01%). This variant has not been reported in the literature in individuals with TRPV4-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: "Possibly 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. |
Molecular Genetics Laboratory, |
RCV001173260 | SCV001336343 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |