Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003340898 | SCV004047726 | uncertain significance | Polycystic kidney disease 4 | criteria provided, single submitter | clinical testing | The c.9289G>A (p.Ala3097Thr) missense variant in PKHD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ala3097Thr variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Ala at position 3097 is changed to a Thr changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ala3097Thr in PKHD1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS). |