ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.219G>A (p.Pro73=)

gnomAD frequency: 0.00006  dbSNP: rs778992418
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517608 SCV000615844 likely benign not specified 2016-12-06 criteria provided, single submitter clinical testing
Invitae RCV002527552 SCV000814461 likely benign Aicardi-Goutieres syndrome 1; Chilblain lupus 1; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV003231629 SCV003929888 uncertain significance not provided 2022-12-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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