ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1120GAA[2] (p.Glu376del)

dbSNP: rs2102987167
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001591532 SCV001815499 uncertain significance not provided 2020-07-02 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003771772 SCV004654319 uncertain significance Developmental and epileptic encephalopathy, 54 2023-11-13 criteria provided, single submitter clinical testing This variant, c.1126_1128del, results in the deletion of 1 amino acid(s) of the HNRNPU protein (p.Glu376del), but otherwise preserves the integrity of the reading frame. 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: 1213360). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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