ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6913C>T (p.Gln2305Ter)

dbSNP: rs1064793762
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479218 SCV000566967 pathogenic not provided 2015-07-24 criteria provided, single submitter clinical testing The Q2305X variant in the PKD1 gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The Q2305X variant wasnot observed in approximately 6,400 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. We interpretQ2305X as a pathogenic variant.

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