Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV002283950 | SCV002573205 | likely pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by less than 10%. Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline. |