ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.369G>A (p.Glu123=)

gnomAD frequency: 0.00001  dbSNP: rs772959288
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711956 SCV000842367 benign not provided 2018-06-05 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003148847 SCV003804623 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 rs772959288 in MODY, yet.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004526759 SCV005039108 benign not specified 2024-03-26 criteria provided, single submitter clinical testing

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