ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.318C>G (p.Asn106Lys)

gnomAD frequency: 0.00006  dbSNP: rs371662800
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001837977 SCV000659279 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325108 SCV002609388 uncertain significance Cardiovascular phenotype 2022-02-14 criteria provided, single submitter clinical testing The p.N106K variant (also known as c.318C>G), located in coding exon 4 of the APOB gene, results from a C to G substitution at nucleotide position 318. The asparagine at codon 106 is replaced by lysine, 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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