ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1000G>C (p.Val334Leu)

gnomAD frequency: 0.00001  dbSNP: rs772372487
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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 RCV002533236 SCV000760966 uncertain significance Developmental and epileptic encephalopathy, 54 2017-08-23 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 334 of the HNRNPU protein (p.Val334Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. 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 missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with HNRNPU-related disease. This variant is present in population databases (rs772372487, ExAC 0.01%).

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