ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.910A>G (p.Arg304Gly)

dbSNP: rs2033692285
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281138 SCV001425094 likely pathogenic Renal cysts and diabetes syndrome 2020-02-01 criteria provided, single submitter research
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465856 SCV002754405 likely risk allele 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 rs2033692285, yet.

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