ClinVar Miner

Submissions for variant NM_002107.7(H3-3A):c.388C>T (p.Arg130Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004792335 SCV005414372 uncertain significance Bryant-Li-Bhoj neurodevelopmental syndrome 1 2024-11-11 criteria provided, single submitter clinical testing
Clinical Genomics Laboratory, Washington University in St. Louis RCV004792335 SCV005685504 uncertain significance Bryant-Li-Bhoj neurodevelopmental syndrome 1 2024-10-25 criteria provided, single submitter clinical testing The H3F3A c.388C>T (p.Arg130Cys) 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. Computational predictors are uncertain as to the impact of this variant on H3F3A 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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