ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.106G>A (p.Ala36Thr)

gnomAD frequency: 0.00001  dbSNP: rs376906221
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001941149 SCV002217276 uncertain significance not provided 2021-10-22 criteria provided, single submitter clinical testing 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 tolerated. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 36 of the HNF4A protein (p.Ala36Thr). This variant is present in population databases (rs376906221, gnomAD 0.008%). 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.
Revvity Omics, Revvity RCV001941149 SCV004235301 uncertain significance not provided 2023-06-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005023480 SCV005656959 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 2024-02-26 criteria provided, single submitter clinical testing

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