ClinVar Miner

Submissions for variant NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)

gnomAD frequency: 0.00109  dbSNP: rs141828689
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000658134 SCV000337331 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000286622 SCV000593005 uncertain significance not specified 2017-06-19 criteria provided, single submitter clinical testing
GeneDx RCV000658134 SCV000779905 uncertain significance not provided 2018-05-24 criteria provided, single submitter clinical testing The R198Q variant in the ABCG5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R198Q variant is observed in 276/126,586 (0.2%) alleles from individuals of non-Finnish European background in large population cohorts, and no individuals were reported to be homozygous (Lek et al., 2016). The R198Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R198Q as a variant of uncertain significance.
Invitae RCV000986627 SCV001035770 likely benign Sitosterolemia 2024-01-22 criteria provided, single submitter clinical testing
Mendelics RCV000986627 SCV001135670 uncertain significance Sitosterolemia 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000658134 SCV001152242 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001141655 SCV001302016 uncertain significance Sitosterolemia 1 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Revvity Omics, Revvity Omics RCV003137889 SCV003822389 uncertain significance Sitosterolemia 2 2023-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298337 SCV003999274 uncertain significance Cardiovascular phenotype 2023-05-25 criteria provided, single submitter clinical testing The p.R198Q variant (also known as c.593G>A), located in coding exon 5 of the ABCG5 gene, results from a G to A substitution at nucleotide position 593. The arginine at codon 198 is replaced by glutamine, an amino acid with highly similar properties. This alteration has been reported as heterozygous in familial hypercholesterolemia cohorts (Lamiquiz-Moneo I et al. J Clin Lipidol, 2017 Oct;11:1432-1440.e4; Pillai KKB et al. Clin Chim Acta, 2022 Feb;527:47-55; Rutkowska L et al. Genes (Basel), 2022 Jun;13:[ePub ahead of print]). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000658134 SCV004224879 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing PP3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000658134 SCV001963432 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000658134 SCV001979090 uncertain significance not provided no assertion criteria provided clinical testing

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