ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter)

dbSNP: rs1057524584
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424048 SCV000535971 pathogenic not provided 2017-01-23 criteria provided, single submitter clinical testing The S118X variant in the HNRNPU gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S118X variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret S118X as a pathogenic variant.
GenomeConnect, ClinGen RCV001824767 SCV002074696 not provided Developmental and epileptic encephalopathy, 1 no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 01-30-2017 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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