ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly)

gnomAD frequency: 0.00002  dbSNP: rs375644184
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000664145 SCV000787597 uncertain significance Monogenic diabetes 2019-02-15 criteria provided, single submitter research ACMG criteria: PP3 (REVEL 0.918 + 8 predictors)=VUS
Illumina Laboratory Services, Illumina RCV001124748 SCV001283735 benign Renal cysts and diabetes syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001557526 SCV001779299 uncertain significance not provided 2020-04-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465749 SCV002754466 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 rs375644184, yet.
Labcorp Genetics (formerly Invitae), Labcorp RCV001557526 SCV004271174 benign not provided 2023-11-17 criteria provided, single submitter clinical testing

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