ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2341A>G (p.Asn781Asp)

dbSNP: rs377250459
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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 RCV002534862 SCV000955670 uncertain significance Developmental and epileptic encephalopathy, 54 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 781 of the HNRNPU protein (p.Asn781Asp). This variant is present in population databases (rs377250459, gnomAD 0.007%). 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: 658400). 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.
Ambry Genetics RCV002442730 SCV002733035 uncertain significance Inborn genetic diseases 2018-08-17 criteria provided, single submitter clinical testing The p.N781D variant (also known as c.2341A>G), located in coding exon 12 of the HNRNPU gene, results from an A to G substitution at nucleotide position 2341. The asparagine at codon 781 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly 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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