Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518233 | SCV000615859 | uncertain significance | not specified | 2017-07-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000807452 | SCV000947505 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2C | 2019-03-28 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with methionine at codon 158 of the TRPV4 protein (p.Val158Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs746905653, ExAC 0.009%). This variant has not been reported in the literature in individuals with TRPV4-related conditions. ClinVar contains an entry for this variant (Variation ID: 448710). 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: "Tolerated"; 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. |