Submissions for variant NM_000458.4(HNF1B):c.345-4C>T

dbSNP: rs200590728

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000734774	SCV000862943	uncertain significance	not provided	2018-08-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001127839	SCV001287189	benign	Renal cysts and diabetes syndrome	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000734774	SCV002248084	uncertain significance	not provided	2022-07-04	criteria provided, single submitter	clinical testing	This sequence change falls in intron 1 of the HNF1B gene. It does not directly change the encoded amino acid sequence of the HNF1B protein. This variant is present in population databases (rs200590728, gnomAD 0.03%), and has an allele count higher than expected for a pathogenic variant. This variant has been observed in individual(s) with clinical features of diabetes (PMID: 27913849). ClinVar contains an entry for this variant (Variation ID: 598393). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002464304	SCV002738641	uncertain significance	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 rs200590728, yet.
CeGaT Center for Human Genetics Tuebingen	RCV000734774	SCV004144496	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	HNF1B: BP4, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000734774	SCV002034160	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000734774	SCV002035761	likely benign	not provided		no assertion criteria provided	clinical testing