Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002962695 | SCV003285996 | uncertain significance | Autosomal recessive polycystic kidney disease | 2022-05-15 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 420 of the PKHD1 protein (p.Gly420Ser). This variant is present in population databases (rs140458350, gnomAD 0.006%). This missense change has been observed in individual(s) with polycystic kidney disease (PMID: 33940108). 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. |
Ce |
RCV003992693 | SCV004811519 | uncertain significance | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | PKHD1: PM2 |