Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001049550 | SCV001213606 | uncertain significance | not provided | 2023-07-03 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with autosomal dominant Alport syndrome (PMID: 29098738). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 846283). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 198 of the COL4A4 protein (p.Pro198Ser). |
Natera, |
RCV001272219 | SCV001453988 | uncertain significance | Alport syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |