ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.3258+2T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003697105 SCV004460957 pathogenic not provided 2023-09-27 criteria provided, single submitter clinical testing 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. Disruption of this splice site has been observed in individuals with clinical features of Dubin-Johnson syndrome (PMID: 23429660, 34858902). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 23 of the ABCC2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ABCC2 are known to be pathogenic (PMID: 9185779, 16549534, 16952291).

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