ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8497C>T (p.Pro2833Ser) (rs1057523051)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438498 SCV000530557 uncertain significance not provided 2018-07-02 criteria provided, single submitter clinical testing The P2833S variant in the PKD1 gene has been reported previously in association with early onset autosomal dominant polycystic kidney disease (Audrézet et al., 2016). The P2833S variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P2833S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P2833S as a variant of uncertain significance.

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