Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001344355 | SCV001538403 | uncertain significance | Long QT syndrome | 2014-08-08 | criteria provided, single submitter | clinical testing | This substitution affects a highly conserved amino acid. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, MutationTaster, AlignGVGD) return conflicting predictions. This sequence change has not been reported in affected patients and has not been reported as a common polymorphism in the population. There is no evidence to indicate that this sequence change is pathogenic. SNTA1 is a candidate gene for long QT syndrome, based on identification of rare missense mutations in long QT syndrome patients. (PMID: 19684871). It is possible that this sequence change represents a benign polymorphism in the SNTA1 gene, although at this time the evidence is insufficient to prove that conclusively. |
Fulgent Genetics, |
RCV002504539 | SCV002813430 | uncertain significance | Long QT syndrome 12 | 2021-10-21 | criteria provided, single submitter | clinical testing |