ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10583C>T (p.Ser3528Phe)

gnomAD frequency: 0.00001  dbSNP: rs971051696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000497083 SCV000588452 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Ambry Genetics RCV002404299 SCV002713800 uncertain significance Cardiovascular phenotype 2024-05-21 criteria provided, single submitter clinical testing The p.S3528F variant (also known as c.10583C>T), located in coding exon 26 of the APOB gene, results from a C to T substitution at nucleotide position 10583. The serine at codon 3528 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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