ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) (rs78218009)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000378411 SCV000329900 likely pathogenic not provided 2018-04-23 criteria provided, single submitter clinical testing The R164X variant in the TREX1 gene has been reported previously in the homozygousstate in an individual with Aicardi-Goutieres syndrome; this individual's consanguineous unaffected parents were both found to be heterozygous carriers of the variant (Crow et al., 2006). This variant is predicted to cause loss of normal protein function through protein truncation. The R164X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R164X as a likely pathogenic variant.
OMIM RCV000004398 SCV000024570 pathogenic Aicardi Goutieres syndrome 1 2006-08-01 no assertion criteria provided literature only
GeneReviews RCV000004398 SCV000147894 pathogenic Aicardi Goutieres syndrome 1 2014-03-13 no assertion criteria provided literature only

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