ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.283G>A (p.Val95Ile)

gnomAD frequency: 0.00002  dbSNP: rs201735739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001431951 SCV001634713 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003394047 SCV004120473 uncertain significance ABCB11-related disorder 2023-08-11 criteria provided, single submitter clinical testing The ABCB11 c.283G>A variant is predicted to result in the amino acid substitution p.Val95Ile. This variant has been reported in an individual with gallstone disease (Zollner et al. 2023. PubMed ID: 37208429). This variant is reported in 0.049% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-169869888-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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