Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004508464 | SCV005020269 | uncertain significance | Cardiovascular phenotype | 2023-12-21 | criteria provided, single submitter | clinical testing | The p.I427S variant (also known as c.1280T>G), located in coding exon 7 of the SNTA1 gene, results from a T to G substitution at nucleotide position 1280. The isoleucine at codon 427 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |