ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11925C>T (p.His3975=)

gnomAD frequency: 0.00001  dbSNP: rs771298370
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001838414 SCV001674611 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-12-02 criteria provided, single submitter clinical testing
GENinCode PLC RCV004820173 SCV005441597 likely benign Familial hypercholesterolemia 2024-02-22 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).
Ambry Genetics RCV004986925 SCV005474822 likely benign Cardiovascular phenotype 2024-06-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV004998710 SCV005624781 uncertain significance not provided 2024-06-12 criteria provided, single submitter clinical testing The APOB c.11925C>T (p.His3975=) synonymous variant has not been reported in individuals with APOB-related conditions in the published literature. The frequency of this variant in the general population, 0.000008 (2/251346 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 APOB mRNA splicing yielded inconclusive findings. Based on the available information, we are unable to determine the clinical significance of this variant.

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