Submissions for variant NM_175914.5(HNF4A):c.669A>G (p.Leu223=)

gnomAD frequency: 0.00425  dbSNP: rs139591750

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000192677	SCV000168830	benign	not specified	2014-03-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000192677	SCV000247564	likely benign	not specified	2015-05-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000192677	SCV000316596	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000961698	SCV001108750	benign	not provided	2024-01-09	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000961698	SCV001144211	benign	not provided	2019-04-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001137144	SCV001297052	benign	Familial hyperinsulinism	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000030027	SCV001297053	benign	Maturity-onset diabetes of the young type 1	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Ambry Genetics	RCV002362599	SCV002663561	benign	Maturity onset diabetes mellitus in young	2015-02-13	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV002490415	SCV002798781	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	2021-12-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000961698	SCV004183911	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	HNF4A: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000961698	SCV005208734	likely benign	not provided		criteria provided, single submitter	not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030027	SCV000052682	not provided	Maturity-onset diabetes of the young type 1	2015-10-02	no assertion provided	clinical testing