ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2277dup (p.Pro760fs)

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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 RCV005154418 SCV005781632 pathogenic Developmental and epileptic encephalopathy, 54 2024-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro760Serfs*5) 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 premature translational stop signal has been observed in individual(s) with developmental and epileptic encephalopathy (PMID: 34012379). For these reasons, this variant has been classified as Pathogenic.

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