ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln)

gnomAD frequency: 0.00005  dbSNP: rs371557531
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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 RCV002051342 SCV002113780 uncertain significance not provided 2023-02-08 criteria provided, single submitter clinical testing 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. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 78 of the HNF4A protein (p.Arg78Gln). This variant is present in population databases (rs371557531, gnomAD 0.009%). This missense change has been observed in individual(s) with clinical features of HNF4A-related conditions (PMID: 32041611). This variant is also known as c.299G>A (p.Arg100Gln). ClinVar contains an entry for this variant (Variation ID: 1350522). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive.
Fulgent Genetics, Fulgent Genetics RCV002482433 SCV002786342 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 2022-04-08 criteria provided, single submitter clinical testing

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