Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000734741 | SCV000862906 | pathogenic | not provided | 2018-08-09 | criteria provided, single submitter | clinical testing | |
| 3billion | RCV001809792 | SCV002058367 | pathogenic | Dubin-Johnson syndrome | 2022-01-03 | 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 (PVS1_VS). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000036, PM2_M). The variant has been reported to be associated with ABCC2 related disorder (ClinVar ID: VCV000598367, PMID:31450232). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
| Invitae | RCV000734741 | SCV004632384 | pathogenic | not provided | 2024-01-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg815*) in the ABCC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCC2 are known to be pathogenic (PMID: 9185779, 16549534, 16952291). This variant is present in population databases (rs773850184, gnomAD 0.05%). This premature translational stop signal has been observed in individual(s) with ABCC2-related conditions (PMID: 31450232, 33585635). ClinVar contains an entry for this variant (Variation ID: 598367). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |