Submissions for variant NM_000384.3(APOB):c.129G>C (p.Ala43=)

gnomAD frequency: 0.00580  dbSNP: rs12720850

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000349686	SCV000427192	benign	Familial hypobetalipoproteinemia 1	2018-11-20	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000401461	SCV000427193	benign	Hypercholesterolemia, autosomal dominant, type B	2018-11-20	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001837886	SCV000554798	benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-01-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771117	SCV000902823	benign	Familial hypercholesterolemia	2017-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001529506	SCV001863166	benign	not provided	2018-07-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379227	SCV002695550	benign	Cardiovascular phenotype	2016-03-23	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001529506	SCV004221683	benign	not provided	2023-09-21	criteria provided, single submitter	clinical testing
GENinCode PLC	RCV000771117	SCV005074081	benign	Familial hypercholesterolemia	2022-10-11	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529506	SCV001743081	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699325	SCV001921919	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001699325	SCV001964682	benign	not specified		no assertion criteria provided	clinical testing