ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12640C>T (p.Arg4214Cys)

gnomAD frequency: 0.00001  dbSNP: rs569380424
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519157 SCV000620252 uncertain significance not provided 2017-08-25 criteria provided, single submitter clinical testing The R4214C variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R4214C variant is observed in 1/4678 (0.02%) alleles from individuals of Finnish European background in the ExAC dataset (Lek et al., 2016). The R4214C 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 not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R4214C as a variant of uncertain significance.

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