Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000171091 | SCV000223656 | uncertain significance | not provided | 2013-05-23 | criteria provided, single submitter | clinical testing | The R369C variant in the SNTA1 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. R369C results in a non-conservative amino acid substitution of positively charged Arginine residue with a neutral, polar Cysteine residue at a position that is conserved across species. In silico analysis predicts R369C is probably damaging to the protein structure/function. The R369C variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in LQT panel(s). |
Ambry Genetics | RCV002453587 | SCV002739400 | uncertain significance | Cardiovascular phenotype | 2022-03-04 | criteria provided, single submitter | clinical testing | The p.R369C variant (also known as c.1105C>T), located in coding exon 6 of the SNTA1 gene, results from a C to T substitution at nucleotide position 1105. The arginine at codon 369 is replaced by cysteine, an amino acid with highly 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. |