ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.717G>A (p.Trp239Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003966822 SCV004777675 likely pathogenic ABCB11-related disorder 2023-12-07 no assertion criteria provided clinical testing The ABCB11 c.717G>A variant is predicted to result in premature protein termination (p.Trp239*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in ABCB11 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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