ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.370G>C (p.Glu124Gln)

gnomAD frequency: 0.00005  dbSNP: rs1473996679
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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 RCV002823696 SCV003199121 uncertain significance Developmental and epileptic encephalopathy, 54 2023-08-10 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1996285). This variant has not been reported in the literature in individuals affected with HNRNPU-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 124 of the HNRNPU protein (p.Glu124Gln).

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