Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003407306 | SCV004112204 | likely pathogenic | ABCC2-related condition | 2023-05-23 | criteria provided, single submitter | clinical testing | The ABCC2 c.4145A>G variant is predicted to result in the amino acid substitution p.Gln1382Arg. This variant was reported in the compound heterozygous state in an individual with Dubin-Johnson syndrome (Patient DJ9, Toh et al. 1999. PubMed ID: 10053008). Function studies showed that this variant impacts protein function (Hashimoto et al. 2002. PubMed ID: 12395335). This variant is reported in 0.064% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-101605538-A-G). This variant is interpreted as likely pathogenic. |
OMIM | RCV000008927 | SCV000029137 | pathogenic | Dubin-Johnson syndrome | 1999-03-01 | no assertion criteria provided | literature only |