ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.393_408dup (p.Glu137fs)

dbSNP: rs74876396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002460916 SCV002757338 likely pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing Identified as a heterozygous variant in patients reported to have Aicardi-Goutieres syndrome in published literature (Rice et al., 2007); Frameshift variant predicted to result in protein truncation, as the last 178 amino acids are replaced with 23 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20301648, 17846997, 18583934)
GeneReviews RCV000114326 SCV000147892 not provided Aicardi-Goutieres syndrome 1 no assertion provided literature only

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