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

Total submissions: 3

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 (http://gnomad.broadinstitute.org), 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; http://www.hgmd.cf.ac.uk/). 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