ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13463T>C (p.Ile4488Thr)

gnomAD frequency: 0.00002  dbSNP: rs374389311
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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 RCV002379731 SCV002689878 uncertain significance Cardiovascular phenotype 2021-06-22 criteria provided, single submitter clinical testing The p.I4488T variant (also known as c.13463T>C), located in coding exon 29 of the APOB gene, results from a T to C substitution at nucleotide position 13463. The isoleucine at codon 4488 is replaced by threonine, 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 RCV002491570 SCV002779128 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002491570 SCV004604248 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-24 criteria provided, single submitter clinical testing

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