ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)

gnomAD frequency: 0.00001  dbSNP: rs752793757
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992592 SCV001144996 uncertain significance not provided 2021-01-19 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000992592 SCV001480157 likely pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001535905 SCV001752544 pathogenic Polycystic kidney disease, adult type 2021-06-30 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV001535905 SCV002581637 likely pathogenic Polycystic kidney disease, adult type 2022-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003413780 SCV004116677 likely pathogenic PKD1-related condition 2022-10-05 criteria provided, single submitter clinical testing The PKD1 c.6643C>T variant is predicted to result in the amino acid substitution p.Arg2215Trp. This variant has been reported in patients with autosomal dominant polycystic kidney disease (ADPKD) and has been described as a recurrent pathogenic variant (Neumann et al. 2013. PubMed ID: 23300259; Table S1, Cornec-Le Gall et al. 2013. PubMed ID: 23431072; Table S2, Heyer et al. 2016. PubMed ID: 26823553; Table S3 & S6, Hwang et al. 2016. PubMed ID: 26453610; Table S6C, Kim et al. 2019. PubMed ID: 31740684; Nielsen et al. 2021. PubMed ID: 33639313). It is listed as likely pathogenic in an ADPKD-specific variant database (http://pkdb.mayo.edu/) and with conflicting interpretations of pathogenicity (uncertain, likely pathogenic, pathogenic) in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/805173/). This variant is reported in 0.0019% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-2158525-G-A). This variant is interpreted as likely pathogenic.

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