ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1000G>A (p.Val334Met)

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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 RCV003591196 SCV004368921 uncertain significance Developmental and epileptic encephalopathy, 54 2022-11-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HNRNPU-related conditions. This variant is present in population databases (rs772372487, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 334 of the HNRNPU protein (p.Val334Met). 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. 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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