ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.364G>C (p.Ala122Pro)

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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 RCV005055005 SCV005688763 uncertain significance Tatton-Brown-Rahman overgrowth syndrome 2023-08-09 criteria provided, single submitter clinical testing The DNMT3A c.364G>C (p.Ala122Pro) variant has not been reported in the medical literature to our knowledge. This variant is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors are uncertain/conflicting as to the impact of this variant on DNTM3A protein 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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