ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.520C>T (p.Gln174Ter)

dbSNP: rs886041983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000351851 SCV000330801 pathogenic not provided 2022-12-06 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay 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: 28815871)
Genetics and Molecular Pathology, SA Pathology RCV002272203 SCV002556802 pathogenic Developmental and epileptic encephalopathy, 54 2021-09-03 criteria provided, single submitter clinical testing The HNRNPU c.520C>T variant is classified as PATHOGENIC (PVS1, PS2, PM2) The HNRNPU c.520C>T variant is a single nucleotide change which is predicted to result in premature termination of the protein product at codon 174 (PVS1). This variant is de novo in this individual (PS2). This variant is in dbSNP (rs886041983) but is absent from population databases (PM2). This variant has been reported in ClinVar as Pathogenic for an unnamed disorder by another diagnostic laboratory (Variation ID: 280850).

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