ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn)

gnomAD frequency: 0.00013  dbSNP: rs200857579
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000386223 SCV000418949 uncertain significance Progressive familial intrahepatic cholestasis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001475597 SCV001679791 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003972400 SCV004795484 uncertain significance ABCB11-related condition 2024-02-09 criteria provided, single submitter clinical testing The ABCB11 c.2834G>A variant is predicted to result in the amino acid substitution p.Ser945Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.027% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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