Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521725 | SCV000618579 | pathogenic | not provided | 2017-06-27 | criteria provided, single submitter | clinical testing | The c.4211_4212delCA variant in the ASXL3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.4211_4212delCA variant causes a frameshift starting with codon Threonine 1404, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Thr1404ArgfsX23. This variant is predicted to cause loss of normal protein function through protein truncation. The c.4211_4212delCA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.4211_4212delCA as a pathogenic variant. |
MGZ Medical Genetics Center | RCV001265365 | SCV002581187 | pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Genome |
RCV001265365 | SCV001443488 | pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2018-04-20 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-04-20 and interpreted as Pathogenic. Variant was initially reported on 2017-07-07 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. |
Genomics England Pilot Project, |
RCV001265365 | SCV001760429 | pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | no assertion criteria provided | clinical testing |