ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg)

gnomAD frequency: 0.00001  dbSNP: rs745557569
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597477 SCV000703819 uncertain significance not provided 2016-11-16 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV002283494 SCV002572990 uncertain significance Progressive familial intrahepatic cholestasis type 2 2022-09-01 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.94). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with ABCB11 -related disorder (PMID: 20414253). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Baylor Genetics RCV003465339 SCV004216681 pathogenic Benign recurrent intrahepatic cholestasis type 2 2023-03-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004742519 SCV005365856 uncertain significance ABCB11-related disorder 2024-08-13 no assertion criteria provided clinical testing The ABCB11 c.2629G>A variant is predicted to result in the amino acid substitution p.Gly877Arg. The ABCB11 gene is also known as BSEP. This variant has been reported in the homozygous state in an individual with progressive familial intrahepatic cholestasis (Shapiro et al. 2010. PubMed ID: 20414253, Figure 3, referred to as G877R). This variant was also described in the compound heterozygous state in an individual who presented with progressive familial intrahepatic cholestasis in adulthood (Husova et al. 2020. Klin. Biochem. Metab., 28(49), No. 1, p.11-14) This variant is reported in 0.00089% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Although we suspect that this variant may be pathogenic, 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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