Submissions for variant NM_000384.3(APOB):c.2556A>C (p.Gly852=)

gnomAD frequency: 0.00001  dbSNP: rs778199079

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001837470	SCV001609742	likely benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-10-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002432126	SCV002741129	likely benign	Cardiovascular phenotype	2017-09-14	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003478819	SCV004221826	likely benign	not provided	2023-08-29	criteria provided, single submitter	clinical testing
GENinCode PLC	RCV004820199	SCV005441543	likely benign	Familial hypercholesterolemia	2024-01-30	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).
PreventionGenetics, part of Exact Sciences	RCV004531241	SCV004726488	likely benign	APOB-related disorder	2019-08-08	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).