ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1108-4G>A

gnomAD frequency: 0.00020  dbSNP: rs372892932
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861000 SCV001001195 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002332753 SCV002601701 benign Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in HNF1A gene can predispose to MODY3. It is associated with both micro and macrovascular complications of diabetes, especially cardiovascular complications. Associated with glucosuria. May respond well to sulfonylureas. However, more evidence is required to confer the association of this particular variant rs372892932 with MODY3.
Ambry Genetics RCV002332753 SCV002739689 uncertain significance Maturity onset diabetes mellitus in young 2018-12-26 criteria provided, single submitter clinical testing The c.1108-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 6 in the HNF1A gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002501189 SCV002807375 likely benign Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma 2021-07-21 criteria provided, single submitter clinical testing

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