ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1681dup (p.Gln561fs)

dbSNP: rs1573330458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986582 SCV001135607 pathogenic Developmental and epileptic encephalopathy, 54 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000986582 SCV001591593 pathogenic Developmental and epileptic encephalopathy, 54 2020-05-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in HNRNPU are known to be pathogenic (PMID: 22678713, 28283832). This variant has not been reported in the literature in individuals with HNRNPU-related conditions. ClinVar contains an entry for this variant (Variation ID: 801643). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln561Profs*8) in the HNRNPU gene. It is expected to result in an absent or disrupted protein product.

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