ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.3894dup (p.Cys1299fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002463976 SCV002754497 likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2022-11-24 criteria provided, single submitter clinical testing The variant c.3894dup (p.(Cys1299Metfs*3)) in exon 12 of the ASXL3 gene is not found in the gnomAD database and it creates a frame shift starting at codon Cys1299. The new reading frame ends in a STOP codon at position 3. ACMG criteria used for classification: PVS1_strg, PM2.

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