Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002452149 | SCV002614363 | uncertain significance | Cardiovascular phenotype | 2021-03-12 | criteria provided, single submitter | clinical testing | The p.I114F variant (also known as c.340A>T), located in coding exon 2 of the SNTA1 gene, results from an A to T substitution at nucleotide position 340. The isoleucine at codon 114 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |