Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV002052065 | SCV002318479 | pathogenic | Arthrogryposis, renal dysfunction, and cholestasis 1 | 2022-03-22 | criteria provided, single submitter | clinical testing | Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. This variant has been reported to be associated with VPS33B related disroder (PMID:22753090). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency:0.0000052). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |