Submissions for variant NM_000384.3(APOB):c.4532C>T (p.Thr1511Ile)

gnomAD frequency: 0.00019  dbSNP: rs146247063

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000523023	SCV000619304	uncertain significance	not provided	2022-01-03	criteria provided, single submitter	clinical testing	Reported in a patient with combined hyperlipidemia (Gill et al., 2021); however, specific clinical information was not provided; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33303402)
Robarts Research Institute, Western University	RCV000660688	SCV000782856	uncertain significance	Hypercholesterolemia, familial, 1	2018-01-02	criteria provided, single submitter	clinical testing
Invitae	RCV001837946	SCV001418816	likely benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2024-01-17	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000523023	SCV001469339	uncertain significance	not provided	2020-01-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002329240	SCV002634143	likely benign	Cardiovascular phenotype	2023-03-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Mayo Clinic Laboratories, Mayo Clinic	RCV000523023	SCV004224851	uncertain significance	not provided	2022-04-28	criteria provided, single submitter	clinical testing	BP4