ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3796C>T (p.Arg1266Trp) (rs376754657)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521287 SCV000620253 uncertain significance not provided 2017-08-25 criteria provided, single submitter clinical testing The R1266W variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R1266W variant is observed in 3/7938 (0.04%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). The R1266W 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. However, this substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R1266W as a variant of uncertain significance.

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