ClinVar Miner

Submissions for variant NM_000040.3(APOC3):c.127G>A (p.Ala43Thr)

gnomAD frequency: 0.00098  dbSNP: rs147210663
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001582598 SCV001811412 uncertain significance not provided 2019-12-04 criteria provided, single submitter clinical testing Reported in association with low plasma triglyceride levels (Liu et al., 2000; Crosby et al., 2014; Jorgensen et al., 2014; Bochem et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Published functional studies demonstrate a damaging effect on protein function (Sundaram et al., 2010); This variant is associated with the following publications: (PMID: 11060345, 20097930, 28825717, 24941082, 29237685, 32041611, 24941081, 31589614, 23701270)
Labcorp Genetics (formerly Invitae), Labcorp RCV001582598 SCV002402353 benign not provided 2023-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371975 SCV002690663 benign Cardiovascular phenotype 2019-08-28 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330497 SCV004037914 likely benign not specified 2023-08-01 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000128450 SCV000172132 protective Coronary heart disease 2014-06-18 no assertion criteria provided literature only
OMIM RCV000148019 SCV000195519 pathogenic Apolipoprotein c-III deficiency 2014-07-03 no assertion criteria provided literature only

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