ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.-83C>T

gnomAD frequency: 0.00016  dbSNP: rs879092890
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500159 SCV000595147 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003148759 SCV003804442 uncertain risk allele 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 rs879092890 in MODY, yet.

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