ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2038del (p.Tyr680fs)

dbSNP: rs1448641464
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001539717 SCV001757520 pathogenic not provided 2025-01-08 criteria provided, single submitter clinical testing Frameshift 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: 22508176, 36938073)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796639 SCV005417965 pathogenic Polycystic kidney disease, adult type criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PS4_Supporting+PP4
Fulgent Genetics, Fulgent Genetics RCV004796639 SCV005643162 likely pathogenic Polycystic kidney disease, adult type 2024-05-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900787 SCV004710342 pathogenic PKD1-related disorder 2023-10-24 no assertion criteria provided clinical testing The PKD1 c.2038delT variant is predicted to result in a frameshift and premature protein termination (p.Tyr680Metfs*105). This variant was reported in an individual with autosomal dominant polycystic kidney disease (ADPKD) (Audrézet et al. 2012. PubMed ID: 22508176, Supp. Table S4). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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