ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln)

gnomAD frequency: 0.00040  dbSNP: rs141862495
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000324012 SCV000345501 uncertain significance not provided 2018-04-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000303326 SCV000418956 uncertain significance Progressive familial intrahepatic cholestasis type 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab RCV001559194 SCV001781296 uncertain significance Benign recurrent intrahepatic cholestasis type 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000303326 SCV001781297 uncertain significance Progressive familial intrahepatic cholestasis type 2 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000324012 SCV003289968 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003401276 SCV004118823 uncertain significance ABCB11-related disorder 2023-08-05 criteria provided, single submitter clinical testing The ABCB11 c.2087G>A variant is predicted to result in the amino acid substitution p.Arg696Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.089% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-169820807-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Mayo Clinic Laboratories, Mayo Clinic RCV000324012 SCV005412935 uncertain significance not provided 2024-09-06 criteria provided, single submitter clinical testing PM2

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