Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596972 | SCV000707146 | uncertain significance | not provided | 2018-06-21 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000664713 | SCV000788717 | uncertain significance | Autosomal recessive polycystic kidney disease | 2017-01-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002476322 | SCV000897307 | uncertain significance | Polycystic kidney disease 4 | 2021-11-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000664713 | SCV003257703 | uncertain significance | Autosomal recessive polycystic kidney disease | 2022-07-19 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 19 of the PKHD1 protein (p.Arg19Cys). This variant is present in population databases (rs767379405, gnomAD 0.04%). This missense change has been observed in individual(s) with polycystic kidney disease (PMID: 27225849). ClinVar contains an entry for this variant (Variation ID: 500969). 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: "Benign"; 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. |