ClinVar Miner

Submissions for variant NM_182919.4(TICAM1):c.11_12inv (p.Thr4Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967683 SCV001115085 likely benign Herpes simplex encephalitis, susceptibility to, 4 2025-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003983312 SCV004800526 uncertain significance TICAM1-related disorder 2024-02-07 no assertion criteria provided clinical testing The TICAM1 c.11_12delinsTG variant is predicted to result in an in-frame deletion and insertion. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. 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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