Submissions for variant NM_000384.3(APOB):c.13452G>A (p.Thr4484=)

gnomAD frequency: 0.00005  dbSNP: rs200374122

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001837921	SCV000554805	likely benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2023-11-10	criteria provided, single submitter	clinical testing
Robarts Research Institute, Western University	RCV000584289	SCV000782814	likely benign	Hypercholesterolemia, familial, 1	2018-01-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000997040	SCV001152100	likely benign	not provided	2019-06-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002383856	SCV002695098	likely benign	Cardiovascular phenotype	2020-09-15	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	RCV004820035	SCV005441635	likely benign	Familial hypercholesterolemia	2023-07-31	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).