ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)

gnomAD frequency: 0.00017  dbSNP: rs373857078
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768245 SCV002008735 uncertain significance not provided 2019-09-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002482284 SCV002789869 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 2022-05-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001768245 SCV003241985 likely benign not provided 2025-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753387 SCV005344494 uncertain significance HNF1A-related disorder 2024-06-28 no assertion criteria provided clinical testing The HNF1A c.1756G>A variant is predicted to result in the amino acid substitution p.Ala586Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.063% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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