ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1208C>T (p.Ala403Val)

gnomAD frequency: 0.00002  dbSNP: rs753112806
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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 RCV002343634 SCV002650188 uncertain significance Cardiovascular phenotype 2021-02-23 criteria provided, single submitter clinical testing The p.A403V variant (also known as c.1208C>T), located in coding exon 10 of the APOB gene, results from a C to T substitution at nucleotide position 1208. The alanine at codon 403 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine 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.
Invitae RCV003768394 SCV004571901 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-24 criteria provided, single submitter clinical testing

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