Submissions for variant NM_000384.3(APOB):c.3490A>G (p.Arg1164Gly) (rs149660265)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo	RCV000497094	SCV000588429	uncertain significance	Familial hypercholesterolemia 1	2016-03-01	criteria provided, single submitter	research
Color	RCV000775542	SCV000909906	uncertain significance	Familial hypercholesterolemia	2018-06-18	criteria provided, single submitter	clinical testing	Variant of Uncertain Significance due to insufficient evidence: This variant (also known as p.Arg1137Gly in the mature protein) is a missense variant located in the beta 1 domain of the APOB protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact the RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with familial hypercholesterolemia in the literature. This variant has been identified in 14/277174 chromosomes (13/126666 non-Finnish European chromosomes) in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.