Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178351 | SCV000230417 | uncertain significance | not provided | 2014-11-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001852211 | SCV002205441 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2021-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 205 of the FKRP protein (p.Arg205Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FKRP-related conditions. ClinVar contains an entry for this variant (Variation ID: 197339). 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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. |