ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1186T>C (p.Tyr396His)

dbSNP: rs1553282732
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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 RCV002529974 SCV000760972 uncertain significance Developmental and epileptic encephalopathy, 54 2023-05-11 criteria provided, single submitter clinical testing 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. 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. This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 396 of the HNRNPU protein (p.Tyr396His). This variant is not present in population databases (gnomAD no frequency). 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: 532558).

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