Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Human Genome Sequencing Center Clinical Lab, |
RCV001258111 | SCV001434976 | likely pathogenic | Renal cysts and diabetes syndrome | 2018-10-15 | criteria provided, single submitter | clinical testing | This c.1282C>T (p.Gln428*) variant in exon 6 of the HNF1B gene results in an early stop codon. Loss of functions mutations in the HNF1B gene are known to be a disease-causing mechanism. It has not been observed in the population databases dbSNP and gnomAD (www.ncbi.nlm.nih.gov/snp/ and http://gnomad.broadinstitute.org/). Therefore, the c.1282C>T (p.Gln428*) variant in the HNF1B gene has been classified as a likely pathogenic variant. |
Clinical Genomics, |
RCV002464430 | SCV002605569 | pathogenic | 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 rs2032692897, yet. |