ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile)

gnomAD frequency: 0.00001  dbSNP: rs751368921
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288065 SCV001474900 uncertain significance not provided 2019-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001288065 SCV001492267 uncertain significance not provided 2022-09-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 994543). This missense change has been observed in individual(s) with clinical features of HNF1A-related conditions (PMID: 12488961, 30155490). This variant is present in population databases (rs751368921, gnomAD 0.02%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 567 of the HNF1A protein (p.Val567Ile). 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 not expected to disrupt HNF1A protein function. 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. Experimental studies have shown that this missense change affects HNF1A function (PMID: 12488961).
New York Genome Center RCV002468213 SCV002764517 uncertain significance Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus 2022-01-12 criteria provided, single submitter clinical testing

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