Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV003296668 | SCV004000400 | uncertain significance | Cardiovascular phenotype | 2023-06-05 | criteria provided, single submitter | clinical testing | The c.1419C>T variant (also known as p.G473G), located in coding exon 7 of the SNTA1 gene, results from a C to T substitution at nucleotide position 1419. This nucleotide substitution does not change the glycine at codon 473. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |
| Invitae | RCV003647970 | SCV004552831 | uncertain significance | Long QT syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change affects codon 473 of the SNTA1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SNTA1 protein. This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2562675). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |