ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1654-4G>A

gnomAD frequency: 0.00005  dbSNP: rs193922485
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030525 SCV000053196 uncertain Renal cysts and diabetes syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Eurofins Ntd Llc (ga) RCV000728201 SCV000855745 uncertain significance not provided 2017-07-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000728201 SCV001475668 uncertain significance not provided 2020-02-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399347 SCV002707072 uncertain significance Maturity onset diabetes mellitus in young 2021-07-25 criteria provided, single submitter clinical testing The c.1654-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 9 in the HNF1B gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002399347 SCV002738626 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 rs193922485, yet.
Labcorp Genetics (formerly Invitae), Labcorp RCV000728201 SCV003292937 likely benign not provided 2024-12-18 criteria provided, single submitter clinical testing

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