Submissions for variant NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)

gnomAD frequency: 0.00037  dbSNP: rs193922584

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	RCV000030485	SCV000053155	likely benign	Maturity-onset diabetes of the young type 3	2011-08-18	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina	RCV000030485	SCV000376722	likely benign	Maturity-onset diabetes of the young type 3	2018-01-12	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000501143	SCV000595130	likely benign	not specified	2016-02-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001520365	SCV000722793	likely benign	not provided	2019-07-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27659712)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520365	SCV001729438	benign	not provided	2024-01-11	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000501143	SCV001880073	benign	not specified	2020-09-29	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002326702	SCV002601585	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 rs193922584 with MODY3.
Ambry Genetics	RCV002326702	SCV002706227	likely benign	Maturity onset diabetes mellitus in young	2016-04-20	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.
New York Genome Center	RCV003227611	SCV003925315	uncertain significance	Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus	2022-09-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001520365	SCV004010202	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	HNF1A: BS1, BS2