Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003337939 | SCV004048385 | uncertain significance | Polycystic kidney disease 4 | criteria provided, single submitter | clinical testing | The missense variant in c.8899G>A (p.Gly2967Arg) in PKHD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Gly2967Arg variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Gly at position 2967 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. The amino acid change p.Gly2967Arg in PKHD1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. The above variant was not detected in the amniotic fluid sample. |