ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9493A>G (p.Thr3165Ala)

gnomAD frequency: 0.00006  dbSNP: rs149166048
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002375060 SCV002688376 uncertain significance Cardiovascular phenotype 2024-03-04 criteria provided, single submitter clinical testing The p.T3165A variant (also known as c.9493A>G), located in coding exon 26 of the APOB gene, results from an A to G substitution at nucleotide position 9493. The threonine at codon 3165 is replaced by alanine, 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.
Fulgent Genetics, Fulgent Genetics RCV002491497 SCV002793277 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002491497 SCV003252091 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-04-27 criteria provided, single submitter clinical testing

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