ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.50-38T>C

gnomAD frequency: 0.44632  dbSNP: rs736824
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000832817 SCV000974573 benign not provided 2018-06-14 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.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003148872 SCV003804586 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 rs736824 in MODY, yet.
Breakthrough Genomics, Breakthrough Genomics RCV000832817 SCV005311827 benign not provided criteria provided, single submitter not provided

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