Submissions for variant NM_000384.3(APOB):c.4178C>T (p.Ala1393Val)

gnomAD frequency: 0.00073  dbSNP: rs143282164

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203214	SCV000257682	uncertain significance	Hypercholesterolemia, familial, 1	2015-04-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001837752	SCV000777074	likely benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2023-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001311182	SCV001501254	likely benign	not provided	2021-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002327057	SCV002628408	benign	Cardiovascular phenotype	2023-11-20	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.
GeneDx	RCV001311182	SCV004025508	uncertain significance	not provided	2023-08-02	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004701266	SCV005204072	likely benign	not specified	2024-06-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541283	SCV004783072	likely benign	APOB-related disorder	2020-10-28	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).