ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.319+19C>T

gnomAD frequency: 0.01208  dbSNP: rs112386711
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252049 SCV000316592 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000252049 SCV000513252 benign not specified 2016-06-06 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.
Athena Diagnostics RCV000252049 SCV000613652 benign not specified 2017-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058454 SCV002417892 benign not provided 2025-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321937 SCV002609401 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.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002321937 SCV003804618 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 rs112386711 in MODY, yet.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002058454 SCV004564801 benign not provided 2023-09-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002058454 SCV005311833 benign not provided criteria provided, single submitter not provided

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