ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2227G>A (p.Gly743Ser)

gnomAD frequency: 0.00011  dbSNP: rs144984907
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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 RCV002547524 SCV001545785 uncertain significance Developmental and epileptic encephalopathy, 54 2024-01-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 743 of the HNRNPU protein (p.Gly743Ser). This variant is present in population databases (rs144984907, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with HNRNPU-related conditions. ClinVar contains an entry for this variant (Variation ID: 1046728). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt HNRNPU protein function with a negative predictive value of 80%. 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.
CeGaT Center for Human Genetics Tuebingen RCV003886504 SCV004704217 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing HNRNPU: BP4, BS2

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