ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2089C>T (p.Gln697Ter)

dbSNP: rs2151816083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251269 SCV002521849 pathogenic Polycystic kidney disease, adult type 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with PKD1 related disorder (PMID: 22508176). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV002251269 SCV005184256 pathogenic Polycystic kidney disease, adult type 2024-07-19 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PS4_Supporting+PP4

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