Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003338918 | SCV004047302 | uncertain significance | Polycystic kidney disease, adult type | criteria provided, single submitter | clinical testing | The missense variant p.G1594V in PKD1 (NM_001009944.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.G1594V variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. There is a moderate physicochemical difference between glycine and valine. The p.G1594V missense variant is predicted to be damaging by both SIFT and PolyPhen2. The nucleotide c.4781 in PKD1 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. Homozygous variants as well as variants across multiple genes have been reported previously in ADPKD (Durkie M et al,Rossetti S et al) .For these reasons, this variant has been classified as Uncertain Significance. |