Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002676143 | SCV002984174 | uncertain significance | Congenital myasthenic syndrome 15 | 2022-04-17 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with ALG14-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 105 of the ALG14 protein (p.Ile105Val). This variant is present in population databases (rs746270285, gnomAD 0.003%). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |