ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10030A>G (p.Lys3344Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002397058 SCV002699537 uncertain significance Cardiovascular phenotype 2023-11-02 criteria provided, single submitter clinical testing The p.K3344E variant (also known as c.10030A>G), located in coding exon 26 of the APOB gene, results from an A to G substitution at nucleotide position 10030. The lysine at codon 3344 is replaced by glutamic acid, an amino acid with similar properties. This variant has been reported in individuals with concerns for familial hypercholesterolemia (FH), including segregating with disease in one family (Rodríguez-Jiménez C et al. Int J Mol Sci, 2023 Apr;24:[ePub ahead of print]; Ambry internal data). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Clinical Genetics Laboratory, Region Ostergotland RCV003389349 SCV004101454 pathogenic Hypercholesterolemia, autosomal dominant, type B 2023-07-24 criteria provided, single submitter clinical testing PS4, PM2, PP1_strong

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