Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731586 | SCV000859426 | pathogenic | not provided | 2018-01-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000731586 | SCV004279466 | pathogenic | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp1073*) 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 (rs771652807, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Dubin‚ÄêJohnson syndrome (PMID: 31544333). ClinVar contains an entry for this variant (Variation ID: 595904). For these reasons, this variant has been classified as Pathogenic. |