ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2168-2_2168-1insAAAA

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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 RCV003591573 SCV004327049 uncertain significance Developmental and epileptic encephalopathy, 54 2023-09-15 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the HNRNPU gene. It does not directly change the encoded amino acid sequence of the HNRNPU protein. It affects a nucleotide within the consensus splice site. This variant has not been reported in the literature in individuals affected with HNRNPU-related conditions. This variant is not present in population databases (gnomAD no frequency). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing 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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