Submissions for variant NM_000384.3(APOB):c.7330C>T (p.Arg2444Cys) (rs754565622)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Robarts Research Institute,Western University	RCV000408831	SCV000484836	uncertain significance	Familial hypercholesterolemia		criteria provided, single submitter	clinical testing
Color	RCV000775210	SCV000909453	uncertain significance	Familial hypercholesterolemias	2018-06-11	criteria provided, single submitter	clinical testing	Variant of Uncertain Significance due to insufficient evidence: This variant (also known as p.Arg2417Cys in the mature protein) is a missense variant located in the alpha 2 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 16/126086 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.

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