ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.493C>T (p.Arg165Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000787194 SCV000926124 pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
PreventionGenetics, part of Exact Sciences RCV003411729 SCV004109048 likely pathogenic HNF1B-related disorder 2023-04-16 criteria provided, single submitter clinical testing The HNF1B c.493C>T variant is predicted to result in the amino acid substitution p.Arg165Cys. This variant has been reported in a fetus with bilateral dilated pelvis and tubular ectasias of the epididymis (Duval et al 2016. PubMed ID: 27297286). This variant has also been reported in patients with Maturity Onset Diabetes of the Young (MODY) and kidney abnormalities (Supplementary Table S1, Dubois-Laforgue D et al 2017. PubMed ID: 28420700; Amaral S. et al. 2023. PubMed ID: 36793123). This variant has not been reported in a large population database (, indicating this variant is rare. Alternative variants at the same amino acid (p.Arg165Gly, p.Arg165His and p.Arg165Pro) have been reported in patients with MODY and renal disease (Human Gene Mutation Database; This variant is interpreted as likely pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV003884729 SCV004699850 pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing HNF1B: PM1, PM2, PM5, PS4:Moderate, PP2, PP3

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