ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)

gnomAD frequency: 0.00015  dbSNP: rs139107479
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Total submissions: 7
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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 RCV000030533 SCV000053204 likely benign Renal cysts and diabetes syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Eurofins NTD LLC (GA) RCV000345835 SCV000334103 benign not specified 2015-08-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000030533 SCV000402436 likely benign Renal cysts and diabetes syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000345835 SCV000513250 benign not specified 2016-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory,University of Chicago RCV000345835 SCV002071989 benign not specified 2017-08-17 criteria provided, single submitter clinical testing
Invitae RCV002054524 SCV002448575 benign not provided 2021-11-28 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002250467 SCV002520721 uncertain significance Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in HNF1B gene are generally 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 for the role of this particular variant (rs139107479) of HNF1B in Diabetes Mellitus or MODY yet.

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