ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9641A>G (p.Asn3214Ser)

gnomAD frequency: 0.00003  dbSNP: rs763030591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003106054 SCV003783698 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307409 SCV003999451 uncertain significance Cardiovascular phenotype 2023-06-16 criteria provided, single submitter clinical testing The p.N3214S variant (also known as c.9641A>G), located in coding exon 26 of the APOB gene, results from an A to G substitution at nucleotide position 9641. The asparagine at codon 3214 is replaced by serine, an amino acid with highly similar properties. This amino acid position is poorly 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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