ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1441T>A (p.Leu481Ile)

gnomAD frequency: 0.00001  dbSNP: rs930828143
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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 RCV002573391 SCV002262420 uncertain significance Developmental and epileptic encephalopathy, 54 2021-04-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with HNRNPU-related conditions. This sequence change replaces leucine with isoleucine at codon 481 of the HNRNPU protein (p.Leu481Ile). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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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