ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2152C>A (p.Gln718Lys) (rs1555458032)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498970 SCV000590175 uncertain significance not provided 2017-06-07 criteria provided, single submitter clinical testing The Q718K variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The Q718K variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The Q718K variant is a semi-conservative amino acid substitution, which 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 Q718Kas a variant of uncertain significance.

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