ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1235dup (p.Val413fs)

dbSNP: rs1598809747
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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 RCV000787080 SCV000926007 pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464315 SCV002682011 likely pathogenic 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 rs1598809747, yet.

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