Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002027694 | SCV002314754 | uncertain significance | Long QT syndrome | 2023-08-14 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1520726). This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. This variant is present in population databases (rs750525497, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 288 of the SNTA1 protein (p.Thr288Lys). |