ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.53C>T (p.Thr18Met)

gnomAD frequency: 0.00003  dbSNP: rs199796094
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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 RCV000711953 SCV000842364 uncertain significance not provided 2018-08-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764240 SCV000895243 uncertain significance Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 2018-10-31 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003148845 SCV003804589 uncertain significance 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 rs199796094 in MODY, yet.

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