ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.583-27G>A

gnomAD frequency: 0.00408  dbSNP: rs113495257
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711961 SCV000842372 benign not provided 2018-05-03 criteria provided, single submitter clinical testing
GeneDx RCV000711961 SCV001813095 likely benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003148851 SCV003804758 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 rs113495257 in MODY, yet.
Breakthrough Genomics, Breakthrough Genomics RCV000711961 SCV005208733 likely benign not provided criteria provided, single submitter not provided

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