ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.629G>A (p.Trp210Ter) (rs184953805)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000408633 SCV000484427 pathogenic Aicardi Goutieres syndrome 1 2015-05-05 criteria provided, single submitter clinical testing This heterozygous nonsense variant is predicted to cause a premature stop codon, resulting in truncation of the protein at position 265 prior to the transmembrane domain, NP_057465.1(TREX1): p.(Trp265*). 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.

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