ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del)

dbSNP: rs2151786683
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001535904 SCV001752543 likely pathogenic Polycystic kidney disease, adult type 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV002463014 SCV002757739 likely pathogenic not provided 2022-05-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 5 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31740684, 11115377, 32901917, 28378423)
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001535904 SCV005416895 uncertain significance Polycystic kidney disease, adult type criteria provided, single submitter clinical testing PM2_Supporting+PM4+PS4_Supporting+PP4
PreventionGenetics, part of Exact Sciences RCV003900785 SCV004714593 pathogenic PKD1-related disorder 2023-12-15 no assertion criteria provided clinical testing The PKD1 c.6657_6671del15 variant is predicted to result in an in-frame deletion (p.Arg2220_Pro2224del). This in-frame deletion variant has been reported in presumably unrelated individuals with polycystic kidney disease (6868del15 in Rossetti et al. 2001. PubMed ID: 11115377; Kim et al. 2019. PubMed ID: 31740684, Supplemental Table S6A; Seo et al. 2020. PubMed ID: 32901917, Supplementary Table 2). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Of note, small in-frame deletions have been commonly reported to be pathogenic for autosomal dominant polycystic kidney disease (ADPKD) (Human Gene Mutation Database; https://pkdb.mayo.edu/). This variant is interpreted as pathogenic.

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