ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9633C>A (p.Asn3211Lys)

gnomAD frequency: 0.00001  dbSNP: rs748318755
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute, Western University RCV000660709 SCV000782898 uncertain significance Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001838089 SCV000945763 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-02-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001838089 SCV002785364 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026064 SCV004906929 uncertain significance Cardiovascular phenotype 2023-12-28 criteria provided, single submitter clinical testing The c.9633C>A (p.N3211K) alteration is located in exon 26 (coding exon 26) of the APOB gene. This alteration results from a C to A substitution at nucleotide position 9633, causing the asparagine (N) at amino acid position 3211 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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