Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546620 | SCV000630812 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2021-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with arginine at codon 352 of the FKTN protein (p.Ser352Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs149085844, ExAC 0.005%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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, |
RCV000546620 | SCV002081964 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2020-01-14 | no assertion criteria provided | clinical testing |