Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000681788 | SCV002276180 | likely pathogenic | not provided | 2021-10-19 | 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. ClinVar contains an entry for this variant (Variation ID: 562337). This missense change has been observed in individuals with COL4A3-related conditions (PMID: 30881523; Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 291 of the COL4A3 protein (p.Gly291Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. |
| Fulgent Genetics, |
RCV002507181 | SCV002802989 | likely pathogenic | Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria | 2021-12-04 | criteria provided, single submitter | clinical testing | |
| Gharavi Laboratory, |
RCV000681788 | SCV000809251 | likely pathogenic | not provided | 2018-09-16 | no assertion criteria provided | research |