ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.4145A>G (p.Gln1382Arg)

gnomAD frequency: 0.00001  dbSNP: rs72558202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences 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

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