ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr)

gnomAD frequency: 0.00093  dbSNP: rs61742247
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001837926 SCV000554826 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000612623 SCV000723753 likely benign not specified 2017-10-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV000461001 SCV001152149 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341063 SCV002636855 likely benign Cardiovascular phenotype 2018-09-28 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000461001 SCV004218652 likely benign not provided 2022-11-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000461001 SCV004564033 likely benign not provided 2023-11-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539966 SCV004784841 likely benign APOB-related disorder 2021-04-07 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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000461001 SCV001741730 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000612623 SCV001925838 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000461001 SCV001974111 likely benign not provided no assertion criteria provided clinical testing

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