Total submissions: 2
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 |