ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5622G>A (p.Gly1874=)

gnomAD frequency: 0.00008  dbSNP: rs144849403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838290 SCV001061042 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346084 SCV002654190 likely benign Cardiovascular phenotype 2022-07-27 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.
PreventionGenetics, part of Exact Sciences RCV003978006 SCV004794413 likely benign APOB-related condition 2024-02-25 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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