ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.541_544dup (p.Ile182fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002293090 SCV002585984 likely pathogenic not provided 2022-09-01 criteria provided, single submitter clinical testing TREX1: PVS1:Strong, PM2
3billion RCV003152792 SCV003841774 likely pathogenic Aicardi-Goutieres syndrome 1 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%. Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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