ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.516C>T (p.Tyr172=)

dbSNP: rs764561297
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465368 SCV002640395 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 rs764561297, yet.
Labcorp Genetics (formerly Invitae), Labcorp RCV003720643 SCV004511249 likely benign not provided 2023-12-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008591 SCV005642005 uncertain significance Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Nonpapillary renal cell carcinoma 2024-01-30 criteria provided, single submitter clinical testing

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