ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10417G>A (p.Ala3473Thr)

gnomAD frequency: 0.00003  dbSNP: rs150790543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001987360 SCV002214264 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388893 SCV002699449 uncertain significance Cardiovascular phenotype 2021-07-22 criteria provided, single submitter clinical testing The p.A3473T variant (also known as c.10417G>A), located in coding exon 26 of the APOB gene, results from a G to A substitution at nucleotide position 10417. The alanine at codon 3473 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.

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