ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.814del (p.Asp272fs)

dbSNP: rs2107265386
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV002225175 SCV002503706 likely pathogenic Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2020-10-26 criteria provided, single submitter clinical testing This sequence change is a deletion of 1 bp in exon 2 (of 2) of TREX1 that is predicted to create a premature termination codon at position 276 (p.Asp272Ilefs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to remove the last 38 amino acids of the protein and a C-terminal region that is critical for protein function (PMID: 23979357). The variant is absent in a large population cohort (gnomAD v2.1). The variant has not been reported previously in relevant medical literature or databases. Based on the classification scheme RMH ACMG Guidelines v1.2.1, this variant is classified as LIKELY PATHOGENIC. Following criteria are met: PVS1_Strong, PM2.

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