Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000444258 | SCV000535916 | uncertain significance | not provided | 2017-01-23 | criteria provided, single submitter | clinical testing | The c.9998 G>A variant in the PKHD1 gene has not been reported previously as a pathogenicvariant, nor as a benign variant, to our knowledge. The c.9998 G>A variant was not observed inapproximately 6500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. In-silico spliceprediction models predict that c.9998 G>A destroys the natural splice donor site of intron 59.However, in the absence of RNA/functional studies, the actual effect of c.9998 G>A change in thisindividual is unknown. If c.9998 G>A does not alter splicing, it will result in the R3333K missensechange. The R3333K variant is a conservative amino acid substitution, which occurs at a position thatis not conserved across species. In silico analysis is inconsistent in its predictions as to whether or notthe variant is damaging to the protein structure/function. We interpret PKHD1 as a variant ofuncertain significance. |
Natera, |
RCV001828451 | SCV002075528 | uncertain significance | Autosomal recessive polycystic kidney disease | 2020-01-31 | no assertion criteria provided | clinical testing |