ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)

dbSNP: rs1288094664
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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 RCV000713796 SCV000844432 likely pathogenic not provided 2020-09-28 criteria provided, single submitter clinical testing The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. Assessment of experimental evidence suggests this variant results in abnormal protein function. The variant impaired the DNA binding and transactivation activity of the protein (PMID: 27899486). The variant is located in a region that is considered important for protein function and/or structure.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463736 SCV002604889 uncertain significance 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 rs1288094664 with MODY3.
Fulgent Genetics, Fulgent Genetics RCV002507251 SCV002816602 likely pathogenic 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 2022-02-18 criteria provided, single submitter clinical testing

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