ClinVar Miner

Submissions for variant NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly)

gnomAD frequency: 0.00190  dbSNP: rs145164937
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000376941 SCV000344234 benign not specified 2016-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000766455 SCV000525138 likely benign not provided 2022-11-08 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genetic Services Laboratory, University of Chicago RCV000376941 SCV000593006 uncertain significance not specified 2017-03-10 criteria provided, single submitter clinical testing
Invitae RCV001086479 SCV001115127 benign Sitosterolemia 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000766455 SCV001152243 benign not provided 2023-02-01 criteria provided, single submitter clinical testing ABCG5: BS1, BS2
Illumina Laboratory Services, Illumina RCV001141660 SCV001302021 likely benign 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
New York Genome Center RCV001836763 SCV002097826 uncertain significance Hyperuricemic nephropathy, familial juvenile type 4 2021-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436125 SCV002747822 benign Cardiovascular phenotype 2020-12-04 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003920159 SCV004731765 uncertain significance ABCG5-related disorder 2024-02-19 criteria provided, single submitter clinical testing The ABCG5 c.293C>G variant is predicted to result in the amino acid substitution p.Ala98Gly. This variant was reported in the heterozygous state in three Argentinian individuals with hypercholesterolemia (Corral et al. 2018. PubMed ID: 30270055). This variant was also identified in the heterozygous state in two unrelated patients with moderate thrombocytopenia and bleeding scores of 0 and 4 (Ali et al. 2016. PubMed ID: 27291889). A blood smear from the patient with the bleeding score of 0 revealed stomatocytes which, along with macrothrombocytopenia, are a feature of sitosterolemia, a disorder associated with recessive inheritance of variants in the ABCG5 gene. A second pathogenic variant was not identified in either patient in the Ali et al. report. This variant is reported in 1.0% of alleles in individuals of Ashkenazi Jewish descent in gnomAD, and one homozygous individual has been documented. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV001141660 SCV002515687 uncertain significance Sitosterolemia 1 no assertion criteria provided research

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