Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222322 | SCV001394416 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2C | 2019-05-12 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with asparagine at codon 706 of the TRPV4 protein (p.Thr706Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. This variant has not been reported in the literature in individuals with TRPV4-related conditions. 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 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"). |