ClinVar Miner

Submissions for variant NM_006852.6(TLK2):c.2133G>C (p.Gln711His)

gnomAD frequency: 0.00001  dbSNP: rs746559284
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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 RCV004556019 SCV005045176 uncertain significance Intellectual disability, autosomal dominant 57 2023-11-19 criteria provided, single submitter clinical testing The TLK2 c.2133G>C (p.Gln711His) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant occurs in an alpha helix in the kinase domain and changes a polar glutamine to a positively charged histidine, but computational predictors suggest that the variant does not impact TLK2 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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