ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.908G>A (p.Arg303His)

dbSNP: rs2033692404
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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, University of Leipzig Medical Center RCV001253232 SCV001428849 uncertain significance Renal cysts and diabetes syndrome 2018-10-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465858 SCV002754376 likely risk allele Maturity onset diabetes mellitus in young criteria provided, single submitter research HNF1B gene mutations are associated with early onset diabetes and pancreatic atrophy. It is also associated with multiple renal manifestations including renal cysts, Tubulointerstitial disease, glomerulocystic disease, renal hypoplasia, hypomagnesemia. However no sufficient evidence is found to ascertain the role of this particular variant rs2033692404, yet.
Fulgent Genetics, Fulgent Genetics RCV005014310 SCV005641984 likely pathogenic Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma 2024-06-06 criteria provided, single submitter clinical testing

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