Submissions for variant NM_175914.5(HNF4A):c.921C>T (p.Asp307=)

gnomAD frequency: 0.00039  dbSNP: rs151168174

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000921821	SCV001067234	likely benign	not provided	2024-04-11	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505366	SCV002805851	likely benign	Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	2021-07-29	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV003148898	SCV003804975	likely benign	Maturity onset diabetes mellitus in young		criteria provided, single submitter	research	Potent mutations in HNF4A are associated with poor insulin secretion in response to hyperglycemia. Associated with MODY1. Patients initially respond well to sulfonylureas but eventually become insulin dependent. However, more evidence is required to ascertain the role of this particular variant rs151168174 in MODY, yet.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004800639	SCV005422619	benign	not specified	2024-10-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003960405	SCV004775714	likely benign	HNF4A-related disorder	2020-02-06	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).