ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.1026C>T (p.Ala342=)

gnomAD frequency: 0.00004  dbSNP: rs751892618
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000912469 SCV001057577 likely benign not provided 2023-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487986 SCV002800338 likely benign Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 2021-08-12 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003148896 SCV003804989 likely 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 rs751892618 in MODY, yet.

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