ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6031C>T (p.Gln2011Ter) (rs1555454739)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627221 SCV000748209 pathogenic not provided 2018-03-23 criteria provided, single submitter clinical testing The Q2011X variant in the PKD1 gene has been reported previously in an individual with a personal and family history of polycystic kidney disease (Audrezet et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q2011X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q2011X as a pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763374 SCV000894070 pathogenic Polycystic kidney disease, adult type 2018-10-31 criteria provided, single submitter clinical testing
Gharavi Laboratory,Columbia University RCV000627221 SCV000809194 pathogenic not provided 2018-09-16 no assertion criteria provided research

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