ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12148G>A (p.Glu4050Lys)

gnomAD frequency: 0.00003  dbSNP: rs201448956
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758752 SCV000887566 uncertain significance not provided 2018-08-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352268 SCV002655141 uncertain significance Cardiovascular phenotype 2023-02-03 criteria provided, single submitter clinical testing The p.E4050K variant (also known as c.12148G>A), located in coding exon 29 of the APOB gene, results from a G to A substitution at nucleotide position 12148. The glutamic acid at codon 4050 is replaced by lysine, an amino acid with 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.

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