ClinVar Miner

Submissions for variant NM_001081550.2(THOC2):c.4135G>T (p.Val1379Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141002 SCV003819515 uncertain significance X-linked intellectual disability-short stature-overweight syndrome 2022-09-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946447 SCV004761648 uncertain significance THOC2-related disorder 2024-01-18 no assertion criteria provided clinical testing The THOC2 c.4135G>T variant is predicted to result in the amino acid substitution p.Val1379Phe. To our knowledge, this variant has not been reported in the literature or in a large population database, 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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