Submissions for variant NM_000545.8(HNF1A):c.1425G>A (p.Pro475=)

gnomAD frequency: 0.00232  dbSNP: rs145589373

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000249955	SCV000305097	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000862784	SCV000513246	likely benign	not provided	2021-06-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000249955	SCV000595128	benign	not specified	2017-07-26	criteria provided, single submitter	clinical testing
Invitae	RCV000862784	SCV001003335	benign	not provided	2024-01-13	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000249955	SCV001880070	benign	not specified	2021-04-06	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002328737	SCV002601717	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 rs145589373 with MODY3.
Ambry Genetics	RCV002328737	SCV002698430	likely benign	Maturity onset diabetes mellitus in young	2015-09-27	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.