ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn)

gnomAD frequency: 0.00001  dbSNP: rs201693189
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001465421 SCV001669406 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001732185 SCV001984280 uncertain significance Progressive familial intrahepatic cholestasis type 2 2020-04-21 criteria provided, single submitter clinical testing
GeneDx RCV001465421 SCV002599596 uncertain significance not provided 2022-03-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28733223)
PreventionGenetics, part of Exact Sciences RCV003946210 SCV004773806 uncertain significance ABCB11-related disorder 2024-01-09 criteria provided, single submitter clinical testing The ABCB11 c.3962G>A variant is predicted to result in the amino acid substitution p.Ser1321Asn. This variant was reported in the heterozygous state in an individual with progressive familial intrahepatic cholestasis (Table S2, Dröge et al. 2017. PubMed ID: 28733223). This variant is reported in 0.12% of alleles in individuals of South Asian descent in gnomAD. Although we suspect that this variant may be benign, 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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