ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9077A>T (p.Asn3026Ile)

gnomAD frequency: 0.00003  dbSNP: rs770981667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838229 SCV000953871 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372291 SCV002688537 uncertain significance Cardiovascular phenotype 2021-12-08 criteria provided, single submitter clinical testing The p.N3026I variant (also known as c.9077A>T), located in coding exon 26 of the APOB gene, results from an A to T substitution at nucleotide position 9077. The asparagine at codon 3026 is replaced by isoleucine, an amino acid with dissimilar 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.
Fulgent Genetics, Fulgent Genetics RCV001838229 SCV002813320 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-10-01 criteria provided, single submitter clinical testing

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