ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr)

dbSNP: rs2135854619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Monogenic Diabetes Variant Curation Expert Panel RCV002250398 SCV002520631 uncertain significance Monogenic diabetes 2022-04-17 reviewed by expert panel curation The c.1825C>T variant in the HNF1 homeobox A gene, HNF1A, causes an amino acid change of histidine to tyrosine at codon 609 (p.(His609Tyr)) of NM_000545.8. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, c.1825C>T meets the criteria to be classified as a variant of uncertain significance for monogenic diabetes. ACMG/AMP criteria applied, as specified by the ClinGen MDEP (specification version 1.1, approved 9/30/21): PM2_Supporting.
Fulgent Genetics, Fulgent Genetics RCV002488631 SCV002789894 uncertain significance 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 2022-05-04 criteria provided, single submitter clinical testing

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