ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6969T>A (p.Asn2323Lys)

gnomAD frequency: 0.00016  dbSNP: rs138118085
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754026 SCV001986976 uncertain significance not provided 2019-05-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Invitae RCV001882808 SCV002313302 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002361012 SCV002663925 uncertain significance Cardiovascular phenotype 2018-02-26 criteria provided, single submitter clinical testing The p.N2323K variant (also known as c.6969T>A), located in coding exon 26 of the APOB gene, results from a T to A substitution at nucleotide position 6969. The asparagine at codon 2323 is replaced by lysine, an amino acid with some similar properties. This amino acid position is not well conserved in available vertebrate species, and lysine 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 RCV001882808 SCV002782742 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-09-02 criteria provided, single submitter clinical testing

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