ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.58dup (p.Glu20fs) (rs78300695)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000114330 SCV000484428 pathogenic Aicardi Goutieres syndrome 1 2015-05-05 criteria provided, single submitter clinical testing This heterozygous duplication variant is predicted to create a substitution of a glutamic acid to a glycine at position 75 and cause a frameshift and premature truncation 82 amino acids downstream, NP_057465.1(TREX1): p.(Glu75Glyfs*82). This change is predicted to be disease-causing by in-silico models and is novel. It was identified in a patient with clinical features of AGS, and a second truncating mutation in trans.
GeneReviews RCV000114330 SCV000147897 pathogenic Aicardi Goutieres syndrome 1 2014-03-13 no assertion criteria provided literature only

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