ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466940 SCV002761894 likely pathogenic Polycystic kidney disease, adult type 2021-07-07 criteria provided, single submitter clinical testing 2xPP, 2xPM
PreventionGenetics, part of Exact Sciences RCV003984264 SCV004800258 likely pathogenic PKD1-related disorder 2024-02-27 no assertion criteria provided clinical testing The PKD1 c.11257C>G variant is predicted to result in the amino acid substitution p.Arg3753Gly. This variant was reported in an individual with autosomal dominant polycystic kidney disease (ADPKD) (Kinoshita et al. 2016. PubMed ID: 27835667, Suppl. Table S6). In addition, we have also found this variant in the heterozygous state in a patient with polycystic kidney disease at PreventionGenetics. Of note, different substitutions at the same codon have been reported in individuals with autosomal dominant polycystic kidney disease (ADPKD) (p.Arg3753Trp at Chang et al. 2013. PubMed ID: 23985799; p.Arg3753Gln at Rossetti et al. 2007. PubMed ID: 17582161; p.Arg3753Leu at Rossetti et al. 2012. PubMed ID: 22383692). The c.11257C>G (p.Arg3753Gly) variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.

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