ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.4108G>A (p.Val1370Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV003459007 SCV004177153 uncertain significance Clark-Baraitser syndrome 2023-07-05 criteria provided, single submitter clinical testing The TRIP12 c.4108G>A (p.Val1370Ile) variant, to our knowledge, has not been reported in the medical literature and is only observed on 2/251,290 alleles in the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors suggest that the variant does not impact TRIP12 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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