ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2168C>T (p.Ala723Val)

dbSNP: rs1680658254
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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 RCV002561832 SCV001385591 uncertain significance Developmental and epileptic encephalopathy, 54 2019-09-15 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 723 of the HNRNPU protein (p.Ala723Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HNRNPU-related conditions. 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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