ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) (rs760838030)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191136 SCV000245545 likely pathogenic Aicardi Goutieres syndrome 1 2014-07-15 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory in trans with a pathogenic variant [V71fs] in an 18-year-old male with delayed development, neurologic regression, mineral deposition in the brain, adult-onset vision loss, inability to stand or walk, dystonia, abnormal teeth, maculopapular rash. This missense variant affects the same residue as another pathogenic variant reported in Aicardi-Goutieres syndrome (PMID 16845398, 18805785, 21270825, 21937424, 23881107). Father, who was heterozygous for this variant, had focal hand dystonia.
Fulgent Genetics,Fulgent Genetics RCV000763111 SCV000893653 likely pathogenic Aicardi Goutieres syndrome 1; Chilblain lupus 1; Systemic lupus erythematosus; Vasculopathy, retinal, with cerebral leukodystrophy 2018-10-31 criteria provided, single submitter clinical testing

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