Submissions for variant NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)

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Total submissions: 14

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mayo Clinic Laboratories, Mayo Clinic	RCV000243741	SCV007317163	benign	not specified	2024-12-23	criteria provided, single submitter	clinical testing	BS1, BS2, BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000954523	SCV005208738	likely benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000954523	SCV004563964	benign	not provided	2025-01-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000954523	SCV004154588	likely benign	not provided	2026-03-01	criteria provided, single submitter	clinical testing	HNF4A: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics	RCV002496457	SCV002806432	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	2021-12-01	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002321491	SCV002754472	benign	Maturity-onset diabetes of the 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 rs61737145 in MODY, yet.
Ambry Genetics	RCV002321491	SCV002606539	likely benign	Maturity-onset diabetes of the young	2017-01-19	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.
Illumina Laboratory Services, Illumina	RCV000030013	SCV001299528	likely benign	Maturity-onset diabetes of the young type 1	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001139382	SCV001299527	likely benign	Familial hyperinsulinism	2017-04-27	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000954523	SCV001101160	benign	not provided	2026-01-26	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000243741	SCV000613649	benign	not specified	2017-07-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000954523	SCV000519034	likely benign	not provided	2020-09-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000243741	SCV000316590	benign	not specified		criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030013	SCV000052668	benign	Maturity-onset diabetes of the young type 1	2011-08-18	criteria provided, single submitter	curation	Converted during submission from benign to Benign.

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