ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1169A>C (p.Asn390Thr)

dbSNP: rs200174361
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003103963 SCV001512836 uncertain significance Developmental and epileptic encephalopathy, 54 2023-11-22 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 390 of the HNRNPU protein (p.Asn390Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of HNRNPU-related conditions (PMID: 35571021; Invitae). This missense change has been observed in at least one individual who was not affected with HNRNPU-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1022113). 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 expected to disrupt HNRNPU protein function with a positive 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.

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