ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp)

dbSNP: rs2034119580
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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 RCV001258209 SCV001435104 uncertain significance Renal cysts and diabetes syndrome criteria provided, single submitter clinical testing
Ambry Genetics RCV002402802 SCV002709519 uncertain significance Maturity onset diabetes mellitus in young 2016-08-01 criteria provided, single submitter clinical testing The p.G53W variant (also known as c.157G>T), located in coding exon 1 of the HNF1B gene, results from a G to T substitution at nucleotide position 157. The glycine at codon 53 is replaced by tryptophan, an amino acid with highly dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002402802 SCV002754369 likely risk allele 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 rs2034119580, yet.

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