ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2006dup (p.Tyr669Ter)

dbSNP: rs2102985419
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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 RCV002553556 SCV002161207 pathogenic Developmental and epileptic encephalopathy, 54 2024-02-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr669*) in the HNRNPU gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HNRNPU are known to be pathogenic (PMID: 22678713, 28283832). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HNRNPU-related conditions. ClinVar contains an entry for this variant (Variation ID: 1390163). For these reasons, this variant has been classified as Pathogenic.

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