ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) (rs755919767)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626116 SCV000746743 uncertain significance Aicardi Goutieres syndrome 1 2017-12-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764509 SCV000895588 uncertain significance Aicardi Goutieres syndrome 1; Chilblain lupus 1; Systemic lupus erythematosus; Vasculopathy, retinal, with cerebral leukodystrophy 2018-10-31 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000626116 SCV000992375 likely pathogenic Aicardi Goutieres syndrome 1 2019-06-18 criteria provided, single submitter clinical testing This TREX1 variant (rs755919767) is rare (<0.1%) in large population datasets (gnomAD: 6/250524 total alleles; 0.0024%; no homozygotes) and has not been reported in the literature, to our knowledge. There are conflicting interpretations of the pathogenicity of this variant in ClinVar. Two submitters classified it as a variant of uncertain clinical significance and one as pathogenic. Two bioinformatic tools queried predict that this substitution would be probably damaging/deleterious, and the proline residue at this position is evolutionarily conserved in mammals. This variant is considered to be likely pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000656254 SCV001153941 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000656254 SCV000778215 pathogenic not provided 2016-09-26 no assertion criteria provided clinical testing

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