ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2308G>A (p.Val770Ile)

dbSNP: rs1415675587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute, Western University RCV000660675 SCV000782829 likely benign Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303092 SCV004000634 uncertain significance Cardiovascular phenotype 2023-05-18 criteria provided, single submitter clinical testing The p.V770I variant (also known as c.2308G>A), located in coding exon 16 of the APOB gene, results from a G to A substitution at nucleotide position 2308. The valine at codon 770 is replaced by isoleucine, an amino acid with highly 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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