ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1441G>A (p.Val481Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002663931 SCV003523145 likely benign not provided 2024-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900872 SCV004709240 uncertain significance ABCB11-related disorder 2023-12-14 criteria provided, single submitter clinical testing The ABCB11 c.1441G>A variant is predicted to result in the amino acid substitution p.Val481Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.052% of alleles in individuals of East Asian descent in gnomAD and has been interpreted in ClinVar as likely benign (https://preview.ncbi.nlm.nih.gov/clinvar/variation/2201827/). Of note, a different variant impacting the same amino acid (p.Val481Glu) has been reported in the biallelic state in a patient with bile salt export pump (BSEP) deficiency (Patient 36 in Strautnieks et al. 2008. PubMed ID: 18395098) and in patients from a cholestasis cohort (Patients 22-24 in Table S3, Hertel. 2021. PubMed ID: 34016879). 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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