Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002334446 | SCV002641111 | uncertain significance | Cardiovascular phenotype | 2021-07-08 | criteria provided, single submitter | clinical testing | The p.S1723I variant (also known as c.5168G>T), located in coding exon 26 of the APOB gene, results from a G to T substitution at nucleotide position 5168. The serine at codon 1723 is replaced by isoleucine, an amino acid with 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. |