Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001862430 | SCV002306519 | likely pathogenic | not provided | 2021-04-06 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 COL4A3 protein function. This variant has been observed in individual(s) with clinical features of autosomal dominant Alport syndrome (PMID: 26809805, external communication). ClinVar contains an entry for this variant (Variation ID: 830011). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 520 of the COL4A3 protein (p.Gly520Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. |
| Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV001029977 | SCV001192779 | pathogenic | Autosomal dominant Alport syndrome | 2019-10-04 | no assertion criteria provided | clinical testing |