Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000699794 | SCV000828521 | uncertain significance | Long QT syndrome | 2021-03-22 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with SNTA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change disrupts the translational stop signal of the SNTA1 mRNA. It is expected to extend the length of the SNTA1 protein by 17 additional amino acid residues. |