ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser) (rs544092291)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436672 SCV000529844 uncertain significance not provided 2016-07-06 criteria provided, single submitter clinical testing The N1834S variant in the PKD1 gene has not been reported previously as a pathogenic variant, noras a benign variant, to our knowledge. This variant was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. The N1834S variant is aconservative amino acid substitution, which is not likely to impact secondary protein structure asthese residues share similar properties. This substitution occurs at a position that is not conserved, andin silico analysis predicts this variant likely does not alter the protein structure/function. We interpretN1834S as a variant of uncertain significance.

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