ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.-167TGGGGGT[3]

dbSNP: rs538476099
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Monogenic Diabetes Variant Curation Expert Panel RCV002222029 SCV002499533 benign Monogenic diabetes 2022-04-12 reviewed by expert panel curation The c.-160_-154dup variant in the HNF1 homeobox A gene, HNF1A, is located in the promoter of NM_000545.8. This variant has a Popmax Filtering allele frequency in gnomAD 2.1.1 of 0.013, which is greater thanthe MDEP threshold for BA1 (greater than or equal to 0.0001) (BA1). Additionally, this variant was identified in a patient with an alternate molecular basis for disease (BP5; internal lab contributors). In summary, c.-160_-154dup meets the criteria to be classified as benign for monogenic diabetes. ACMG/AMP criteria applied, as specified by the ClinGen MDEP (specification version 1.1, approved 9/30/21): BA1, BP5.
Eurofins Ntd Llc (ga) RCV000286626 SCV000342741 uncertain significance not provided 2016-06-09 criteria provided, single submitter clinical testing
GeneDx RCV000286626 SCV001793214 likely benign not provided 2018-08-25 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463672 SCV002601639 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 rs538476099 with MODY3.
Fulgent Genetics, Fulgent Genetics RCV002480037 SCV002796791 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 2022-04-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000286626 SCV005329659 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing HNF1A: BS2
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000286626 SCV001551665 uncertain significance not provided no assertion criteria provided clinical testing

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