ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.3216dup (p.Asp1073Ter)

dbSNP: rs771652807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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.

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