ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.1650G>A (p.Ala550=)

gnomAD frequency: 0.00008  dbSNP: rs145754381
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591149 SCV000707227 uncertain significance not provided 2017-03-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000591149 SCV002175981 likely benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395533 SCV002703477 likely benign Cardiovascular phenotype 2022-04-03 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330819 SCV004038351 likely benign not specified 2023-08-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004742530 SCV005346185 likely benign ABCG8-related disorder 2024-06-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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