ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile)

gnomAD frequency: 0.02469  dbSNP: rs1800961
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117238 SCV000151411 benign not specified 2013-03-05 criteria provided, single submitter clinical testing
GeneDx RCV001521057 SCV000168829 benign not provided 2019-04-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26981542, 29632382, 12669197, 20878384, 22995991, 15728204, 24503134, 24097065, 20981092, 10983627, 27884173, 27346685, 28008009, 26551672, 26105150, 24448600, 30297969, 25361053, 26503572)
PreventionGenetics, part of Exact Sciences RCV000117238 SCV000316593 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280314 SCV000433892 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.
Illumina Laboratory Services, Illumina RCV000337755 SCV000433893 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). 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445529 SCV000537113 benign Monogenic diabetes 2019-01-25 criteria provided, single submitter research ACMG criteria: BA1 (Overall MAF in gnomAD 3%, 4.1% in European Finnish and 4.6% Latino), BS2 (549 cases and 492 controls in T2DM)= Benign (Note: ClinVar=benign with 2 stars, Chicago and GeneDx call it benign . BP4 not being used because REVEL 0.426, BP6 no longer applied)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000117238 SCV000539310 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 309/13006=2.3%
Labcorp Genetics (formerly Invitae), Labcorp RCV001521057 SCV001730311 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226673 SCV002505502 benign Type 2 diabetes mellitus criteria provided, single submitter research rs1800961, a loss-of-function mutation in HNF4A is associated with poor insulin secretion in response to hyperglycemia. These are associated with MODY1. Patients initially respond well to sulfonylureas but eventually become insulin dependent. This variant is also associated with increased risk of T2DM and periodontitis.
Ambry Genetics RCV002453432 SCV002614616 benign Maturity onset diabetes mellitus in young 2015-07-16 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.
Breakthrough Genomics, Breakthrough Genomics RCV001521057 SCV005208732 likely benign not provided criteria provided, single submitter not provided

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