ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7823A>C (p.Gln2608Pro)

gnomAD frequency: 0.00003  dbSNP: rs767180578
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838235 SCV000957062 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-07-17 criteria provided, single submitter clinical testing
GeneDx RCV001772117 SCV001994155 uncertain significance not provided 2019-07-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002406861 SCV002669588 uncertain significance Cardiovascular phenotype 2021-12-29 criteria provided, single submitter clinical testing The p.Q2608P variant (also known as c.7823A>C), located in coding exon 26 of the APOB gene, results from an A to C substitution at nucleotide position 7823. The glutamine at codon 2608 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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