ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)

dbSNP: rs1555459084
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV000625531 SCV001425203 pathogenic Polycystic kidney disease, adult type 2020-02-01 criteria provided, single submitter research
GeneDx RCV005001090 SCV005626569 pathogenic not provided 2024-07-10 criteria provided, single submitter clinical testing Observed in patients with polycystic kidney disease in published literature and referred for testing at GeneDx (PMID: 33532864, 30816285); 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 in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30816285, 33532864)
Fulgent Genetics, Fulgent Genetics RCV000625531 SCV005640605 pathogenic Polycystic kidney disease, adult type 2024-05-14 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625531 SCV000746026 likely pathogenic Polycystic kidney disease, adult type 2017-09-18 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004740374 SCV005362754 pathogenic PKD1-related disorder 2024-08-31 no assertion criteria provided clinical testing The PKD1 c.896_897delCT variant is predicted to result in a frameshift and premature protein termination (p.Pro299Argfs*71). This variant was reported in individuals with autosomal dominant polycystic kidney disease (ADPKD) (Supplementary Table 2 of Pandita et al. 2019. PubMed ID: 30816285; Supplementary Table 2 of Domingo-Gallego et al. 2022. PubMed ID: 33532864). This variant has not been reported in a large population database, indicating this variant is rare. Frameshift variants in PKD1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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