ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2585T>C (p.Val862Ala)

gnomAD frequency: 0.00002  dbSNP: rs145142090
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Integrative and Experimental Genomics, University of Luebeck RCV000172972 SCV000212150 likely benign Hypercholesterolemia, familial, 1 criteria provided, single submitter research
Invitae RCV001837741 SCV000541937 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426803 SCV002743156 uncertain significance Cardiovascular phenotype 2018-07-16 criteria provided, single submitter clinical testing The p.V862A variant (also known as c.2585T>C), located in coding exon 17 of the APOB gene, results from a T to C substitution at nucleotide position 2585. The valine at codon 862 is replaced by alanine, an amino acid with similar properties. This variant was reported in an individual with premature myocardial infarction; however, it was reportedly was not found to segregate with elevated LDL-C levels in other family members (Brænne I et al. Eur. J. Hum. Genet., 2016 Feb;24:191-7). This amino acid position is not well conserved in available vertebrate species. 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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