ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.403A>G (p.Ile135Val)

gnomAD frequency: 0.00001  dbSNP: rs769296548
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256242 SCV000322825 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV000776489 SCV000912069 likely benign Familial hypercholesterolemia 2018-07-06 criteria provided, single submitter clinical testing Likely Benign based on current evidence: This missense variant (also known as p.Ile108Val in the mature protein) is located in the beta alpha 1 domain of the APOB protein. Computational prediction tools suggest that this variant may not impact the protein function. This variant occurs in more than 15 mammalian species, suggesting that this 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 the variant been reported in individuals affected with familial hypercholesterolemia in the literature. This variant has been identified in 11/277218 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on available evidence, this variant is classified as Likely Benign.
Invitae RCV001837810 SCV001490369 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-12-29 criteria provided, single submitter clinical testing

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