Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001855996 | SCV002285507 | uncertain significance | not provided | 2023-04-05 | criteria provided, single submitter | clinical testing | 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 SLC45A2 protein function. ClinVar contains an entry for this variant (Variation ID: 627610). This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 31229681). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 64 of the SLC45A2 protein (p.Gly64Val). |
| Center of Medical Genetics, |
RCV000851386 | SCV000902477 | likely pathogenic | Oculocutaneous albinism type 4 | 2019-03-26 | no assertion criteria provided | clinical testing |