Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000467867 | SCV000548518 | uncertain significance | Walker-Warburg congenital muscular dystrophy | 2022-06-14 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 28 of the FKRP protein (p.Gln28Glu). This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 408722). 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 tolerated. 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. |
Eurofins Ntd Llc |
RCV000594457 | SCV000702295 | uncertain significance | not provided | 2016-10-21 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001833578 | SCV002088928 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2020-02-26 | no assertion criteria provided | clinical testing |