ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.2789G>A (p.Trp930Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985236 SCV004801606 pathogenic Bohring-Opitz syndrome 2017-09-22 criteria provided, single submitter clinical testing The ASXL1 c.2789G>A p.(Trp930Ter) nonsense variant is expected to result in the loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 of the Genome Aggregation Database. The variant was identified in a de novo state in the proband. Based on the available evidence, the c.2789G>A p.(Trp930Ter) variant is classified as pathogenic for Bohring-Opitz syndrome.

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