ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4274C>T (p.Ser1425Phe)

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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 RCV002330055 SCV002631579 uncertain significance Cardiovascular phenotype 2022-07-06 criteria provided, single submitter clinical testing The p.S1425F variant (also known as c.4274C>T), located in coding exon 26 of the APOB gene, results from a C to T substitution at nucleotide position 4274. The serine at codon 1425 is replaced by phenylalanine, an amino acid with highly dissimilar 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.
Invitae RCV003775854 SCV004577820 benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-09-21 criteria provided, single submitter clinical testing

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