ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.706_707del (p.Glu236fs)

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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 RCV003593290 SCV004292027 pathogenic Developmental and epileptic encephalopathy, 54 2023-09-15 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of HNRNPU-related conditions (PMID: 32319732). For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (rs770849021, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Glu236Thrfs*6) 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).

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