Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002364928 | SCV002666598 | uncertain significance | Cardiovascular phenotype | 2020-11-02 | criteria provided, single submitter | clinical testing | The p.R234S variant (also known as c.702G>T) is located in coding exon 4 of the SNTA1 gene. The arginine at codon 234 is replaced by serine, an amino acid with dissimilar properties. This change occurs in the first base pair of coding exon 4. This amino acid position is highly conserved in available vertebrate species. 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. |