Submissions for variant NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)

gnomAD frequency: 0.00117  dbSNP: rs147366495

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861834	SCV001002239	benign	not provided	2024-01-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001816930	SCV002065526	likely benign	not specified	2017-11-22	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002319595	SCV002604922	likely 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 rs147366495 with MODY3.
Ambry Genetics	RCV002319595	SCV002700263	likely benign	Maturity onset diabetes mellitus in young	2016-11-08	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.
Fulgent Genetics, Fulgent Genetics	RCV002495222	SCV002794571	likely benign	Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma	2021-09-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965648	SCV004779403	likely benign	HNF1A-related disorder	2020-08-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).