ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12182A>T (p.Glu4061Val)

dbSNP: rs747772556
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003279054 SCV004002890 uncertain significance Cardiovascular phenotype 2023-05-02 criteria provided, single submitter clinical testing The p.E4061V variant (also known as c.12182A>T), located in coding exon 29 of the APOB gene, results from an A to T substitution at nucleotide position 12182. The glutamic acid at codon 4061 is replaced by valine, an amino acid with dissimilar properties. This alteration has been reported in a hypertriglyceridemia cohort (Gill PK et al. J Clin Lipidol, 2021 Nov;15:79-87). This amino acid position is not well 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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