ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.86C>A (p.Pro29His)

gnomAD frequency: 0.00003  dbSNP: rs763529905
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002680738 SCV002988718 uncertain significance not provided 2022-06-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HNF4A-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is present in population databases (rs763529905, gnomAD 0.03%). This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 29 of the HNF4A protein (p.Pro29His).
Athena Diagnostics RCV004999793 SCV005622332 likely benign not specified 2024-01-24 criteria provided, single submitter clinical testing

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