Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002358003 | SCV002660061 | uncertain significance | Cardiovascular phenotype | 2021-10-28 | criteria provided, single submitter | clinical testing | The p.E405* variant (also known as c.1213G>T), located in coding exon 6 of the SNTA1 gene, results from a G to T substitution at nucleotide position 1213. This changes the amino acid from a glutamic acid to a stop codon within coding exon 6. This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of SNTA1 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |