Submissions for variant NM_000545.8(HNF1A):c.276C>T (p.Leu92=)

gnomAD frequency: 0.00269  dbSNP: rs34056805

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117224	SCV000151397	benign	not specified	2013-03-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000362293	SCV000376709	benign	Maturity-onset diabetes of the young type 3	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000117224	SCV000730110	benign	not specified	2018-03-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000864595	SCV001005415	benign	not provided	2024-01-15	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000864595	SCV001146106	benign	not provided	2018-09-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000864595	SCV002545077	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	HNF1A: BP4, BP7, BS1, BS2
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002326816	SCV002600912	benign	Maturity onset diabetes mellitus in young		criteria provided, single submitter	research	Mutations in HNF1A gene can predispose to MODY3. It is associated with both micro and macrovascular complications of diabetes, especially cardiovascular complications. Associated with glucosuria. May respond well to sulfonylureas. However, more evidence is required to confer the association of this particular variant rs34056805 with MODY3.
Ambry Genetics	RCV002326816	SCV002747194	likely benign	Maturity onset diabetes mellitus in young	2022-03-30	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315667	SCV004015762	benign	Nonpapillary renal cell carcinoma	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000864595	SCV005234391	benign	not provided		criteria provided, single submitter	not provided