ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.824A>C (p.Glu275Ala)

gnomAD frequency: 0.00001  dbSNP: rs199890776
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001294067 SCV001482861 uncertain significance Type 1 diabetes mellitus 20 2019-07-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV005094356 SCV005816599 uncertain significance not provided 2024-10-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 275 of the HNF1A protein (p.Glu275Ala). This variant is present in population databases (rs199890776, gnomAD 0.007%). This missense change has been observed in individual(s) with HNF1A-related conditions (PMID: 29207974, 34789499). ClinVar contains an entry for this variant (Variation ID: 998284). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt HNF1A protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects HNF1A function (PMID: 27899486). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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