Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002335293 | SCV002640018 | uncertain significance | Cardiovascular phenotype | 2022-01-12 | criteria provided, single submitter | clinical testing | The c.1015delC variant, located in coding exon 5 of the SNTA1 gene, results from a deletion of one nucleotide at nucleotide position 1015, causing a translational frameshift with a predicted alternate stop codon (p.R339Vfs*148). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of SNTA1 has not been clearly established as a mechanism of disease, and the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |