ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7283A>G (p.Lys2428Arg) (rs1369533953)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000581160 SCV000687258 uncertain significance Familial hypercholesterolemia 2017-09-28 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant is a missense variant located in the alpha 2 domain. Computational prediction tools and conservation analyses suggest that this variant may not impact 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 the variant been reported in individuals affected with FH in the literature. This variant is absent in the Exome Aggregation Consortium (ExAC) general population database.
Color RCV000776596 SCV000912211 likely benign Familial hypercholesterolemias 2018-05-09 criteria provided, single submitter clinical testing Likely Benign variant based on current evidence: This missense variant (also known as p.Lys2401Arg in the mature protein) is located in the alpha 2 domain of the APOB protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. This variant occurs in over 30 mammalian species, suggesting that the variant is functionally tolerated. 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 is rare in the general population and has been identified has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Based on available evidence, this variant is classified as Likely Benign.

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