ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.257T>A (p.Leu86His)

gnomAD frequency: 0.00001  dbSNP: rs200442958
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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 RCV001810526 SCV002059972 uncertain significance Monogenic diabetes 2021-12-30 reviewed by expert panel curation The c.257T>A variant in the HNF1 homeobox A gene, HNF1A, causes an amino acid change of leucine to histidine at codon 86 (p.(Leu86His)) of NM_000545.8. This variant is predicted to be deleterious by computational evidence, with a REVEL score of 0.8209, which is greater than or equal to the MDEP VCEP threshold of 0.70 (PP3). Also, this variant has a Popmax Filtering allele frequency in gnomAD 2.1.1 of 0.00004341, which is greater than or equal to the MDEP threshold for BS1 (≥0.000033) (BS1). In summary, c.257T>A 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 6/4/2021): PP3, BS1
Fulgent Genetics, Fulgent Genetics RCV002503303 SCV002813332 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 2024-05-09 criteria provided, single submitter clinical testing

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