ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.3125dup (p.Leu1043fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Government Thiruvarur Medical College and Hospital RCV004699149 SCV005200497 likely pathogenic Bohring-Opitz syndrome 2024-05-15 no assertion criteria provided clinical testing This variant is in the last exon, it might not cause non sense mediated decay, it is expected to cause truncation of protein. Many termination variants downstream to this position have been identified in literature to be disease causing. Loss of function variants has been previously reported to be disease causing (Hoischen et al., 2011). Further evidence will be required to prove pathogenicity of the variant. For these reasons, this variant has been classified as Likely Pathogenic.

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