Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001972887 | SCV002252287 | uncertain significance | not provided | 2021-07-09 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with threonine at codon 1136 of the LRP5 protein (p.Ile1136Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LRP5 protein function. This variant has not been reported in the literature in individuals with LRP5-related conditions. This variant is present in population databases (rs776839535, ExAC 0.003%). |
Fulgent Genetics, |
RCV002492173 | SCV002787735 | uncertain significance | Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts | 2021-09-15 | criteria provided, single submitter | clinical testing |