Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000463569 | SCV000553690 | uncertain significance | Long QT syndrome | 2016-10-26 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SNTA1-related disease. This sequence change replaces leucine with proline at codon 368 of the SNTA1 protein (p.Leu368Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. |