ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.121del (p.Gly40_Val41insTer)

dbSNP: rs1555833144
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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 RCV000625564 SCV000926184 pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465738 SCV002754415 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 rs1555833144, yet.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625564 SCV000746060 pathogenic Renal cysts and diabetes syndrome 2017-09-18 no assertion criteria provided clinical testing

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