ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.41C>T (p.Ala14Val)

dbSNP: rs772214801
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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 RCV002208719 SCV002495700 uncertain significance Monogenic diabetes 2022-02-02 reviewed by expert panel curation The c.41C>T variant in the HNF1 homeobox A gene, HNF1A, causes an amino acid change of alanine to valine at codon 14 (p.(Ala14Val)) of NM_000545.6. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). Lastly, this variant is located within the dimerization domain of HNF1A, which is defined as critical for the protein’s function by the ClinGen MDEP (PM1_Supporting). In summary, this variant 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 9/30/2021): PM2_Supporting, PM1_Supporting.
Fulgent Genetics, Fulgent Genetics RCV005002802 SCV005632341 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 2024-04-10 criteria provided, single submitter clinical testing

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