ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.290C>A (p.Ala97Glu)

dbSNP: rs374794304
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001918145 SCV002173032 uncertain significance not provided 2021-06-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with HNF1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glutamic acid at codon 97 of the HNF1A protein (p.Ala97Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt HNF1A protein function.

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