ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.3298G>A (p.Ala1100Thr)

gnomAD frequency: 0.00039  dbSNP: rs31655
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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) RCV000591612 SCV000708665 uncertain significance not provided 2017-05-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543385 SCV004773231 uncertain significance ABCB4-related disorder 2023-11-22 criteria provided, single submitter clinical testing The ABCB4 c.3298G>A variant is predicted to result in the amino acid substitution p.Ala1100Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-87035792-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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