ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) (rs1064794206)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000486461 SCV000928221 pathogenic not provided 2019-02-12 criteria provided, single submitter clinical testing
GeneDx RCV000486461 SCV000568200 likely pathogenic not provided 2017-01-27 criteria provided, single submitter clinical testing The Q3474X variant in the PKD1 gene, also reported as Q3473X, has been reported previously in association with autosomal dominant polycystic kidney disease (Rossetti et al., 2002; Jin et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q3474X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret Q3474X as a pathogenic variant
Gharavi Laboratory,Columbia University RCV000486461 SCV000809276 pathogenic not provided 2018-09-16 no assertion criteria provided research

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