ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4056_4064dup (p.Gly1354_Leu1356dup) (rs777844352)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690246 SCV000817927 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2018-03-26 criteria provided, single submitter clinical testing This variant, c.4056_4064dupCCTGGGTGT, results in the insertion of 3 amino acid(s) to the APOB protein (p.Gly1354_Leu1356dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with APOB-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000775532 SCV000909896 uncertain significance Familial hypercholesterolemias 2018-09-24 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant (also known as p.Glu1327_Leu1329dup in the mature protein) is an in-frame duplication of 3 amino acids located in the beta 1 domain of the APOB protein. To our knowledge, functional assays have not been performed for this variant nor has the variant been reported in individuals affected with familial hypercholesterolemia in the literature. Computational splicing tools suggest that this variant may not impact the RNA splicing. This variant has been identified in 26/34420 Latino 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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