Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000188794 | SCV000242418 | uncertain significance | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
| Invitae | RCV000691814 | SCV000819607 | uncertain significance | Progressive myoclonic epilepsy | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 65 of the SCARB2 protein (p.Tyr65Cys). This variant is present in population databases (rs138955932, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with SCARB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 206708). 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 SCARB2 protein function with a positive predictive value of 80%. 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. |
| Fulgent Genetics, |
RCV002485278 | SCV002782245 | uncertain significance | Action myoclonus-renal failure syndrome | 2022-01-04 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV002485278 | SCV003820680 | uncertain significance | Action myoclonus-renal failure syndrome | 2021-09-07 | criteria provided, single submitter | clinical testing |