ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter)

dbSNP: rs1057518899
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415042 SCV000492862 pathogenic Polycystic kidney disease; Hypertensive disorder 2015-06-11 criteria provided, single submitter clinical testing
GeneDx RCV002473003 SCV002770380 pathogenic not provided 2022-06-29 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31740684, 29633482)
Preventiongenetics, part of Exact Sciences RCV003409581 SCV004109647 pathogenic PKD1-related condition 2023-05-27 criteria provided, single submitter clinical testing The PKD1 c.3520C>T variant is predicted to result in premature protein termination (p.Gln1174*). This variant has been reported in individuals with autosomal dominant polycystic kidney disease (Zhang et al 2018. PubMed ID: 29633482; Kim H et al 2019. PubMed ID: 31740684). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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