ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11018A>G (p.Lys3673Arg)

gnomAD frequency: 0.00005  dbSNP: rs374411400
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838161 SCV001420884 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424770 SCV002741970 uncertain significance Cardiovascular phenotype 2022-09-13 criteria provided, single submitter clinical testing The p.K3673R variant (also known as c.11018A>G), located in coding exon 26 of the APOB gene, results from an A to G substitution at nucleotide position 11018. The lysine at codon 3673 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and arginine is the reference amino acid in other 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.
Fulgent Genetics, Fulgent Genetics RCV001838161 SCV002792889 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-07-22 criteria provided, single submitter clinical testing

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