Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001052232 | SCV001216432 | uncertain significance | Neuronal ceroid lipofuscinosis 1 | 2022-09-07 | 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 not expected to disrupt PPT1 protein function. ClinVar contains an entry for this variant (Variation ID: 848465). This variant has not been reported in the literature in individuals affected with PPT1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 28 of the PPT1 protein (p.Asp28Glu). 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, |
RCV001052232 | SCV002086012 | uncertain significance | Neuronal ceroid lipofuscinosis 1 | 2020-10-13 | no assertion criteria provided | clinical testing |