ClinVar Miner

Submissions for variant NM_015057.5(MYCBP2):c.5652G>T (p.Arg1884Ser)

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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 RCV005052175 SCV005685148 uncertain significance MYCBP2-related developmental delay with corpus callosum defects 2024-10-17 criteria provided, single submitter clinical testing The MYCBP2 c.5652G>T (p.Arg1884Ser) 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. Computational predictors suggest that the variant does not impact MYCBP2 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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