ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11656C>A (p.Arg3886Ser)

dbSNP: rs1057522812
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419831 SCV000529599 uncertain significance not provided 2017-02-20 criteria provided, single submitter clinical testing The R3886S variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Population data in the NHLBI Exome Sequencing Project and Exome Aggregation Consortium (ExAC) dataset are low quality and are therefore unreliable. The R3886S variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position that is not conserved and in silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, we interpret R3886S as a variant of uncertain significance

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