Submissions for variant NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)

gnomAD frequency: 0.00015  dbSNP: rs139107479

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030533	SCV000053204	likely benign	Renal cysts and diabetes syndrome	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Likely benign.
Eurofins Ntd Llc (ga)	RCV000345835	SCV000334103	benign	not specified	2015-08-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000030533	SCV000402436	likely benign	Renal cysts and diabetes syndrome	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000345835	SCV000513250	benign	not specified	2016-08-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000345835	SCV002071989	benign	not specified	2017-08-17	criteria provided, single submitter	clinical testing
Invitae	RCV002054524	SCV002448575	benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002250467	SCV002520721	uncertain significance	Maturity onset diabetes mellitus in young		criteria provided, single submitter	research	Mutations in HNF1B gene are generally 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 for the role of this particular variant (rs139107479) of HNF1B in Diabetes Mellitus or MODY yet.
Ambry Genetics	RCV002250467	SCV002673082	benign	Maturity onset diabetes mellitus in young	2017-11-16	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV002054524	SCV004009785	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	HNF1B: BS1, BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315522	SCV004015772	benign	Nonpapillary renal cell carcinoma	2023-07-07	criteria provided, single submitter	clinical testing