Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000710877 | SCV000841185 | pathogenic | not provided | 2018-04-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000710877 | SCV002234967 | pathogenic | not provided | 2022-01-07 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as 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 COL4A5 protein function. ClinVar contains an entry for this variant (Variation ID: 24678). This missense change has been observed in individuals with clinical features of Alport syndrome (PMID: 19919694; Invitae). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1244 of the COL4A5 protein (p.Gly1244Asp). |
Fulgent Genetics, |
RCV002496435 | SCV002808847 | pathogenic | X-linked Alport syndrome | 2022-03-23 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000710877 | SCV004227698 | pathogenic | not provided | 2022-09-27 | criteria provided, single submitter | clinical testing | PP3, PM1, PM2_supporting, PS3_supporting, PS4_moderate |