ClinVar Miner

Submissions for variant NM_007118.4(TRIO):c.3406C>A (p.Gln1136Lys)

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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 RCV005052275 SCV005685397 uncertain significance Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 2024-12-13 criteria provided, single submitter clinical testing The TRIO c.3406C>A (p.Gln1136Lys) variant, to our knowledge, has not been reported in the medical literature. This variant is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant resides within the spectrin repeat domain of TRIO (Gazdagh G et al., PMID: 36987741). Computational predictors are uncertain as to the impact of this variant on TRIO 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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