ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2425-2A>G

dbSNP: rs1553281924
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677643 SCV000803773 pathogenic Developmental and epileptic encephalopathy, 54 2017-08-04 criteria provided, single submitter clinical testing
GeneDx RCV001824358 SCV002074035 pathogenic not provided 2024-06-07 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 33874999, 38846959, 35138025)

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