ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.717dup (p.Pro240fs)

dbSNP: rs1598842892
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Total submissions: 2
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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 RCV000787158 SCV000926088 pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003884728 SCV004698146 likely pathogenic Type 2 diabetes mellitus criteria provided, single submitter research Potent mutations in HNF1B gene 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 rs1598842892, yet.

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