ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1744-4A>T

dbSNP: rs1242693487
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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 RCV002555740 SCV002183140 uncertain significance Developmental and epileptic encephalopathy, 54 2023-10-10 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the HNRNPU gene. It does not directly change the encoded amino acid sequence of the HNRNPU protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of HNRNPU-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 1409024). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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