Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004508461 | SCV005020236 | uncertain significance | Cardiovascular phenotype | 2023-12-14 | criteria provided, single submitter | clinical testing | The c.1110G>A variant (also known as p.T370T), located in coding exon 6 of the SNTA1 gene, results from a G to A substitution at nucleotide position 1110. This nucleotide substitution does not change the threonine at codon 370. This nucleotide position is not well 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 acceptor site. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |