ClinVar Miner

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

gnomAD frequency: 0.00003  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
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003148896 SCV003804989 likely benign Maturity-onset diabetes of the 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.
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000912469 SCV001057577 likely benign not provided 2025-08-08 criteria provided, single submitter clinical testing

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