ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1954A>G (p.Ile652Val)

gnomAD frequency: 0.00001  dbSNP: rs1261806485
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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 RCV002563150 SCV001401254 uncertain significance Developmental and epileptic encephalopathy, 54 2019-08-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 652 of the HNRNPU protein (p.Ile652Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with HNRNPU-related conditions. This variant is not present in population databases (ExAC no frequency).

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