ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.8066T>C (p.Ile2689Thr)

gnomAD frequency: 0.00004  dbSNP: rs142582947
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576586 SCV001803806 likely benign not provided 2019-05-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004738350 SCV005351429 uncertain significance TRIO-related disorder 2024-06-20 no assertion criteria provided clinical testing The TRIO c.8066T>C variant is predicted to result in the amino acid substitution p.Ile2689Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.018% of alleles in individuals of European (Non-Finnish) descent in gnomAD, which is likely too frequent for an unreported disease-causing variant. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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