Submissions for variant NM_000384.3(APOB):c.11965C>T (p.Arg3989Cys)

gnomAD frequency: 0.00010  dbSNP: rs150713761

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Robarts Research Institute, Western University	RCV000408762	SCV000484826	uncertain significance	Hypercholesterolemia, familial, 1		criteria provided, single submitter	clinical testing
Invitae	RCV001837887	SCV001411794	likely benign	Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1	2023-03-20	criteria provided, single submitter	clinical testing
GeneDx	RCV003328581	SCV004035661	uncertain significance	not provided	2023-09-15	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003328581	SCV004220827	uncertain significance	not provided	2023-07-21	criteria provided, single submitter	clinical testing	To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.0002 (5/24964 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.