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

gnomAD frequency: 0.00073  dbSNP: rs143282164

Total submissions: 6

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
Invitae	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	uncertain significance	Cardiovascular phenotype	2020-12-16	criteria provided, single submitter	clinical testing	The p.A1393V variant (also known as c.4178C>T), located in coding exon 25 of the APOB gene, results from a C to T substitution at nucleotide position 4178. The alanine at codon 1393 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
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
PreventionGenetics, part of Exact Sciences	RCV003967541	SCV004783072	likely benign	APOB-related condition	2020-10-28	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).