Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002015282 | SCV002281676 | uncertain significance | not provided | 2021-06-24 | criteria provided, single submitter | clinical testing | 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 SI protein function. 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. This variant has not been reported in the literature in individuals with SI-related conditions. This variant is present in population databases (rs760505676, ExAC 0.001%). This sequence change replaces arginine with tryptophan at codon 1655 of the SI protein (p.Arg1655Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. |
Fulgent Genetics, |
RCV002486593 | SCV002782564 | uncertain significance | Sucrase-isomaltase deficiency | 2021-08-19 | criteria provided, single submitter | clinical testing |