ClinVar Miner

Submissions for variant NM_015338.6(ASXL1):c.1567A>T (p.Lys523Ter)

dbSNP: rs2123267182
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001449799 SCV001653082 likely pathogenic Bohring-Opitz syndrome 2020-07-03 criteria provided, single submitter clinical testing The p.Lys523X variant in ASXL1 has not been previously reported in individuals with Bohring-Opitz syndrome and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 523, which is predicted to lead to a truncated or absent protein. Loss of function of the ASXL1 gene is an established disease mechanism in autosomal dominant Bohring-Opitz syndrome. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant Bohring-Opitz syndrome. ACMG/AMP Criteria applied: PVS1, PM2.

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