ClinVar Miner

Submissions for variant NM_030632.3(ASXL3):c.2801T>G (p.Leu934Ter)

dbSNP: rs2067636699
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breda Genetics srl RCV001723518 SCV001950438 likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2021-05-03 criteria provided, single submitter clinical testing The variant c.2801T>G (p.Leu934*) in the ASXL3 gene has been reported as affecting function in the Global Variome shared LOVD database v.3.0. It creates a premature stop codon at amino acid position Leu934, which is likely to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). This variant has not been reported in dbSNP, gnomAD or ClinVar. The variant has likely arisen de novo.
MGZ Medical Genetics Center RCV001723518 SCV002579580 likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 2021-11-22 criteria provided, single submitter clinical testing

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