Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000710881 | SCV000841189 | uncertain significance | not provided | 2017-12-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000710881 | SCV002112592 | uncertain significance | not provided | 2021-08-27 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with alanine at codon 1570 of the COL4A5 protein (p.Pro1570Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with COL4A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 585547). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Natera, |
RCV001278792 | SCV001465825 | uncertain significance | X-linked Alport syndrome | 2020-08-14 | no assertion criteria provided | clinical testing |