ClinVar Miner

Submissions for variant NM_033629.6(TREX1):c.739G>C (p.Ala247Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713870 SCV000844509 uncertain significance not provided 2018-04-13 criteria provided, single submitter clinical testing
Invitae RCV000793452 SCV000932804 uncertain significance Aicardi Goutieres syndrome 1; Vasculopathy, retinal, with cerebral leukodystrophy; Chilblain Lupus 2018-10-12 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 247 of the TREX1 protein (p.Ala247Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs112741962, ExAC 0.1%). This variant has been observed in individuals affected with systemic lupus erythematosus as well as healthy controls (PMID: 17660818, 21270825). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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