ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5387C>G (p.Thr1796Ser)

gnomAD frequency: 0.00006  dbSNP: rs529168934
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838143 SCV001408785 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-10-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343621 SCV002646692 uncertain significance Cardiovascular phenotype 2022-10-07 criteria provided, single submitter clinical testing The p.T1796S variant (also known as c.5387C>G), located in coding exon 26 of the APOB gene, results from a C to G substitution at nucleotide position 5387. The threonine at codon 1796 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine 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.
Fulgent Genetics, Fulgent Genetics RCV001838143 SCV002777251 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-03 criteria provided, single submitter clinical testing

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