ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.1967+2T>C

gnomAD frequency: 0.00001  dbSNP: rs387906396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002512922 SCV003441593 pathogenic not provided 2022-09-21 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with Dubin-Johnson syndrome (PMID: 9878557, 15870973, 29499989). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs387906396, gnomAD 0.02%). This sequence change affects a donor splice site in intron 15 of the ABCC2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. ClinVar contains an entry for this variant (Variation ID: 8417). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 15 and introduces a premature termination codon (PMID: 9878557). The resulting mRNA is expected to undergo nonsense-mediated decay.
OMIM RCV000008928 SCV000029138 pathogenic Dubin-Johnson syndrome 1998-12-18 no assertion criteria provided literature only

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