Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008582 | SCV001168355 | pathogenic | not provided | 2019-02-14 | criteria provided, single submitter | clinical testing | The c.4087_4088delATinsG variant in the ASXL3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.4087_4088delATinsG variant causes a frameshift starting with codon Methionine 1363, changes this amino acid to a Glycine residue, and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Met1363GlyfsX12. This variant is predicted to cause loss of normal protein function through protein truncation. The c.4087_4088delATinsG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.4087_4088delATinsG as a pathogenic variant. |
Genome |
RCV001265440 | SCV001443571 | pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2019-04-15 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-04-15 and interpreted as Pathogenic. Variant was initially reported on 2019-02-22 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. |