ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9998G>A (p.Arg3333Lys)

dbSNP: rs1057524563
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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, Inc. RCV001828451 SCV002075528 uncertain significance Autosomal recessive polycystic kidney disease 2020-01-31 no assertion criteria provided clinical testing

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