ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.402C>T (p.Ile134=)

dbSNP: rs1555831433
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597016 SCV000704463 uncertain significance not provided 2016-12-07 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464263 SCV002710140 likely benign 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 rs1555831433, yet.

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