ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1824C>G (p.Ser608Arg)

gnomAD frequency: 0.00001  dbSNP: rs1877445147
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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 RCV002250399 SCV002520632 uncertain significance Monogenic diabetes 2022-04-17 reviewed by expert panel curation The c.1824C>G variant in the HNF1 homeobox A gene, HNF1A, causes an amino acid change of serine to arginine at codon 608 (p.(Ser608Arg)) of NM_000545.8. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, c.1824C>G 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 RCV005008488 SCV005634525 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 2024-01-31 criteria provided, single submitter clinical testing

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