ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.206_207TG[3] (p.Val71fs) (rs74689946)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000191137 SCV000245546 pathogenic Aicardi Goutieres syndrome 1 2014-07-15 criteria provided, single submitter clinical testing This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory in trans with a missense variant [R114C] 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.

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