ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2085dup (p.Gly696fs)

dbSNP: rs1553282235
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623960 SCV000851029 pathogenic Inborn genetic diseases 2016-05-31 criteria provided, single submitter clinical testing The c.2085dupT pathogenic mutation, located in coding exon 11 of the HNRNPU gene, results from a duplication of T at nucleotide position 2085, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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