ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly)

gnomAD frequency: 0.15795  dbSNP: rs2230028
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245480 SCV000304286 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000245480 SCV000331494 benign not specified 2016-07-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000677337 SCV000470145 benign Progressive familial intrahepatic cholestasis type 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000343693 SCV000470146 benign Cholestasis, intrahepatic, of pregnancy, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000245480 SCV000517696 benign not specified 2016-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
SIB Swiss Institute of Bioinformatics RCV000677337 SCV000803607 benign Progressive familial intrahepatic cholestasis type 3 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign - Stand Alone, for PFIC3, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000245480 SCV002051329 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Invitae RCV002057357 SCV002409100 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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