ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1239C>T (p.Val413=)

gnomAD frequency: 0.00005  dbSNP: rs201113814
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Total submissions: 4
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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 RCV001264601 SCV001442833 benign not specified 2020-10-23 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464431 SCV002695879 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 rs201113814, yet.
GeneDx RCV003106169 SCV003762083 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003106169 SCV004266389 likely benign not provided 2023-02-24 criteria provided, single submitter clinical testing

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