ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.3001C>T (p.Gln1001Ter)

dbSNP: rs2067642748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001551109 SCV001771543 pathogenic not provided 2021-02-19 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 1248 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002072044 SCV002320779 likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2022-01-01 criteria provided, single submitter clinical testing

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