Submissions for variant NM_000384.3(APOB):c.5022G>A (p.Glu1674=)

gnomAD frequency: 0.00004  dbSNP: rs367718499

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002061101	SCV002462850	likely benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-08-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002334449	SCV002641506	likely benign	Cardiovascular phenotype	2022-04-09	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	RCV004820108	SCV005441655	likely benign	Familial hypercholesterolemia	2024-01-17	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	RCV004535910	SCV004751194	likely benign	APOB-related disorder	2019-06-04	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).