ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2122C>G (p.Gln708Glu)

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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 RCV003377574 SCV004096073 uncertain significance Cardiovascular phenotype 2023-09-05 criteria provided, single submitter clinical testing The p.Q708E variant (also known as c.2122C>G), located in coding exon 15 of the APOB gene, results from a C to G substitution at nucleotide position 2122. The glutamine at codon 708 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Invitae RCV003778101 SCV004573939 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-10-10 criteria provided, single submitter clinical testing

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