ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.1032T>A (p.Ile344=)

gnomAD frequency: 0.00056  dbSNP: rs145880201
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001565494 SCV005208736 likely benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV001565494 SCV004511632 benign not provided 2025-12-10 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002395235 SCV003804991 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 rs145880201 in MODY, yet.
Fulgent Genetics, Fulgent Genetics RCV002490883 SCV002800311 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 2021-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395235 SCV002702258 likely benign Maturity-onset diabetes of the young 2017-11-16 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.
GeneDx RCV001565494 SCV001788849 likely benign not provided 2020-12-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000516333 SCV000613647 benign not specified 2016-10-06 criteria provided, single submitter clinical testing

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