ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12765C>T (p.Phe4255=)

gnomAD frequency: 0.00003  dbSNP: rs746160756
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838385 SCV001618246 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375072 SCV002686732 likely benign Cardiovascular phenotype 2022-06-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478717 SCV004221659 uncertain significance not provided 2023-08-03 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000098 (3/30532 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect APOB mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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