Submissions for variant NM_000384.3(APOB):c.13680T>C (p.Thr4560=)

gnomAD frequency: 0.00064  dbSNP: rs72654427

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001837971	SCV000659269	benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2025-02-04	criteria provided, single submitter	clinical testing
Robarts Research Institute, Western University	RCV000660667	SCV000782816	likely benign	Hypercholesterolemia, familial, 1	2018-01-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000771134	SCV000902918	likely benign	Familial hypercholesterolemia	2017-06-26	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001281699	SCV001133394	benign	not specified	2019-08-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000560486	SCV001152098	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	APOB: BP4, BP7
Illumina Laboratory Services, Illumina	RCV001136657	SCV001296513	uncertain significance	Familial hypobetalipoproteinemia 1	2017-08-01	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001136658	SCV001296514	benign	Hypercholesterolemia, autosomal dominant, type B	2017-08-01	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000560486	SCV001823976	likely benign	not provided	2021-09-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002384271	SCV002702218	likely benign	Cardiovascular phenotype	2018-02-05	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.
GENinCode PLC	RCV000771134	SCV005441591	likely benign	Familial hypercholesterolemia	2023-09-11	criteria provided, single submitter	clinical testing	This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).