ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.912C>A (p.Arg304=)

dbSNP: rs760811566
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289000 SCV001476478 benign not specified 2020-02-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486088 SCV002797908 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 2021-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543000 SCV003249925 likely benign not provided 2023-10-11 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003148971 SCV003804960 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 rs760811566 in MODY, yet.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001289000 SCV005077589 likely benign not specified 2024-04-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003148971 SCV005601294 likely benign Maturity onset diabetes mellitus in young 2024-08-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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