Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001225108 | SCV001397344 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with asparagine at codon 163 of the FKTN protein (p.Ile163Asn). The isoleucine residue is weakly conserved and there is a large physicochemical difference between isoleucine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. 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: "Benign"; Align-GVGD: "Class C35"). 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. |
Natera, |
RCV001225108 | SCV002079576 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2021-06-18 | no assertion criteria provided | clinical testing |