ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.1478A>G (p.His493Arg)

gnomAD frequency: 0.00005  dbSNP: rs947189709
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418029 SCV000532782 uncertain significance not provided 2020-05-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001861623 SCV002232649 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-02-23 criteria provided, single submitter clinical testing
Clinical Genomics Laboratory, Washington University in St. Louis RCV001861623 SCV004177097 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2023-10-20 criteria provided, single submitter clinical testing The ATRX c.1478A>G (p.His493Arg) variant has not been reported in the medical literature to our knowledge. This variant is only observed on 1/183,019 total alleles in 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 ATRX protein function. This variant has been submitted to ClinVar as both a variant of uncertain significance and likely benign; one submitter each (variation ID: 390054). 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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