Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000761950 | SCV000892177 | likely benign | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Broad Center for Mendelian Genomics, |
RCV001249062 | SCV001423009 | uncertain significance | Maturity onset diabetes mellitus in young | 2020-01-22 | criteria provided, single submitter | curation | The c.100C>T (p.Leu34=) variant in HNF1B has not been previously reported in individuals with MODY and has been identified in 0.03% (8/30614) of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs373201245). Please note that for diseases with clinical variability, or reduced penetrance, pathogenic variants may be present at a low frequency in the general population. Computational prediction tools, including splice predictors, and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.100C>T (p.Leu34=) variant is uncertain. ACMG/AMP Criteria applied: PM2, BP7, BP4 (Richards 2015). |
Clinical Genomics, |
RCV001249062 | SCV002754413 | 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 rs373201245, yet. |