ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.446A>G (p.Glu149Gly)

gnomAD frequency: 0.00001  dbSNP: rs375569535
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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 RCV002563453 SCV002217505 uncertain significance Developmental and epileptic encephalopathy, 54 2022-02-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with HNRNPU-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 149 of the HNRNPU protein (p.Glu149Gly).
Ambry Genetics RCV002331511 SCV002636663 uncertain significance Inborn genetic diseases 2019-05-19 criteria provided, single submitter clinical testing The p.E149G variant (also known as c.446A>G), located in coding exon 1 of the HNRNPU gene, results from an A to G substitution at nucleotide position 446. The glutamic acid at codon 149 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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