ClinVar Miner

Submissions for variant NM_022437.3(ABCG8):c.1200G>A (p.Thr400=)

gnomAD frequency: 0.00008  dbSNP: rs369131115
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732565 SCV000860534 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
Invitae RCV000732565 SCV001037141 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343601 SCV002651581 likely benign Cardiovascular phenotype 2019-10-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV003928241 SCV004745394 likely benign ABCG8-related condition 2022-12-07 criteria provided, single submitter 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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