Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002363882 | SCV002625754 | uncertain significance | Cardiovascular phenotype | 2021-07-04 | criteria provided, single submitter | clinical testing | The p.T126I variant (also known as c.377C>T), located in coding exon 2 of the SNTA1 gene, results from a C to T substitution at nucleotide position 377. The threonine at codon 126 is replaced by isoleucine, an amino acid with similar 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. |