ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.901G>A (p.Ala301Thr)

gnomAD frequency: 0.00001  dbSNP: rs555681479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713797 SCV000844433 uncertain significance not provided 2017-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713797 SCV001486607 uncertain significance not provided 2024-07-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 301 of the HNF1A protein (p.Ala301Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with HNF1A-related conditions (PMID: 10027593, 19336507, 37396188). ClinVar contains an entry for this variant (Variation ID: 586796). 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 with a negative predictive value of 80%. Experimental studies have shown that this missense change does not substantially affect HNF1A function (PMID: 37396188). 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.
Molecular Genetics, Madras Diabetes Research Foundation RCV002051887 SCV002318438 uncertain significance Maturity onset diabetes mellitus in young criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010725 SCV005634480 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 2024-05-02 criteria provided, single submitter clinical testing

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