ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7298A>T (p.His2433Leu)

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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 RCV002382708 SCV002673913 uncertain significance Cardiovascular phenotype 2024-06-27 criteria provided, single submitter clinical testing The p.H2433L variant (also known as c.7298A>T), located in coding exon 26 of the APOB gene, results from an A to T substitution at nucleotide position 7298. The histidine at codon 2433 is replaced by leucine, an amino acid with 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003776372 SCV004573051 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-03-13 criteria provided, single submitter clinical testing

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