Total submissions: 5
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, |
RCV000992592 | SCV001480157 | likely pathogenic | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | |
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 | |
Prevention |
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. |