ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.2982del (p.His995fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690561 SCV005184737 pathogenic Bohring-Opitz syndrome 2024-05-13 criteria provided, single submitter clinical testing Variant summary: ASXL1 c.2982delT (p.His995ThrfsX29) results in a premature termination codon, predicted to cause a truncation of the encoded protein encompassing a region that includes at least one downstream pathogenic variant. The variant was absent in 251452 control chromosomes (gnomAD). To our knowledge, no occurrence of c.2982delT in individuals affected with Bohring-Opitz Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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