ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.3337del (p.Val1114fs)

dbSNP: rs775771081
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489957 SCV000576642 pathogenic not provided 2023-04-04 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614)
Revvity Omics, Revvity RCV003129872 SCV003816507 likely pathogenic Dubin-Johnson syndrome 2023-01-30 criteria provided, single submitter clinical testing
Invitae RCV000489957 SCV004650943 pathogenic not provided 2023-09-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val1114Serfs*2) 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 (rs775771081, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ABCC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 426249). For these reasons, this variant has been classified as Pathogenic.

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