ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.345-1G>T

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030529 SCV000053200 likely pathogenic Renal cysts and diabetes syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000030529 SCV000926155 pathogenic Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464087 SCV002605446 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 rs193922488, yet.

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