ClinVar Miner

Submissions for variant NM_001378457.1(DMXL2):c.3172G>A (p.Gly1058Arg)

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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 RCV003458992 SCV004177103 uncertain significance Developmental and epileptic encephalopathy, 81 2023-10-23 criteria provided, single submitter clinical testing The DMXL2 c.3172G>A (p.Gly1058Arg) variant, to our knowledge, has not been reported in the medical literature. The variant is only observed on 1/251,224 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 DMXL2 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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