ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter)

dbSNP: rs2032692897
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 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, Uppaluri K&H Personalized Medicine Clinic 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.
Ambry Genetics RCV002464430 SCV004884003 pathogenic Maturity onset diabetes mellitus in young 2024-02-23 criteria provided, single submitter clinical testing The c.1282C>T (p.Q428*) alteration, located in exon 6 (coding exon 6) of the HNF1B gene, consists of a C to T substitution at nucleotide position 1282. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 428. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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