Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729581 | SCV000857254 | uncertain significance | not provided | 2018-07-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002485868 | SCV002787214 | uncertain significance | Polycystic kidney disease 4 | 2021-12-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002535123 | SCV003460379 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with valine at codon 2266 of the PKHD1 protein (p.Ala2266Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs755286726, ExAC 0.008%). This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 594320). 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: "Possibly 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. |