ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.862C>T (p.Arg288Trp)

gnomAD frequency: 0.00001  dbSNP: rs768263630
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001847398 SCV002104355 uncertain significance not provided 2024-12-05 criteria provided, single submitter clinical testing Identified in an individual with early-onset type 2 diabetes in published literature (PMID: 29207974); reported as c.928C>T p.(R310W) due to the use of alternate nomenclature; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29207974)
Labcorp Genetics (formerly Invitae), Labcorp RCV001847398 SCV002301953 uncertain significance not provided 2025-01-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 288 of the HNF4A protein (p.Arg288Trp). This variant is present in population databases (rs768263630, gnomAD 0.01%). This missense change has been observed in individual(s) with type 2 diabetes (PMID: 29207974). This variant is also known as R310W. ClinVar contains an entry for this variant (Variation ID: 1343853). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on HNF4A 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.
Fulgent Genetics, Fulgent Genetics RCV005038356 SCV005656988 uncertain significance Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 2024-05-10 criteria provided, single submitter clinical testing

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