Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004508469 | SCV005020479 | uncertain significance | Cardiovascular phenotype | 2024-03-04 | criteria provided, single submitter | clinical testing | The p.P70Q variant (also known as c.209C>A), located in coding exon 1 of the SNTA1 gene, results from a C to A substitution at nucleotide position 209. The proline at codon 70 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |