ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln)

gnomAD frequency: 0.00232  dbSNP: rs74358901
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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) RCV000395777 SCV000342574 benign not specified 2016-06-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001139254 SCV001299380 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001514945 SCV001722915 benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348017 SCV002646390 likely benign Cardiovascular phenotype 2020-03-19 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Fulgent Genetics, Fulgent Genetics RCV002494877 SCV002795536 likely benign Gallbladder disease 4; Sitosterolemia 1 2021-11-02 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001139254 SCV003822414 likely benign Sitosterolemia 1 2023-03-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930153 SCV004750746 benign ABCG8-related disorder 2019-06-05 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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