Submissions for variant NM_175914.5(HNF4A):c.427-20C>T

gnomAD frequency: 0.00008  dbSNP: rs184217112

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000517635	SCV000613654	benign	not specified	2016-11-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001796090	SCV002407242	benign	not provided	2023-10-17	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506254	SCV002795899	benign	Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	2021-08-12	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV003148765	SCV003804635	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 rs184217112 in MODY, yet.
Ambry Genetics	RCV003148765	SCV004849025	uncertain significance	Maturity onset diabetes mellitus in young	2016-02-09	criteria provided, single submitter	clinical testing	The c.427-20C>T intronic alteration consists of a C to T substitution 20 nucleotides before coding exon 5 in the HNF4A gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000517635	SCV002033810	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001796090	SCV002036405	likely benign	not provided		no assertion criteria provided	clinical testing