Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001325936 | SCV001516946 | uncertain significance | Epilepsy, progressive myoclonic, 1B | 2021-10-05 | criteria provided, single submitter | clinical testing | 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: "Deleterious"; PolyPhen-2: "Probably 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. This variant has not been reported in the literature in individuals affected with PRICKLE1-related conditions. This variant is present in population databases (rs774422189, ExAC 0.001%). This sequence change replaces alanine with threonine at codon 409 of the PRICKLE1 protein (p.Ala409Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. |