Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004508472 | SCV005020480 | uncertain significance | Cardiovascular phenotype | 2024-02-06 | criteria provided, single submitter | clinical testing | The p.P75L variant (also known as c.224C>T), located in coding exon 1 of the SNTA1 gene, results from a C to T substitution at nucleotide position 224. The proline at codon 75 is replaced by leucine, 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. |