Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000327055 | SCV000337698 | uncertain significance | not provided | 2015-11-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001208102 | SCV001379474 | uncertain significance | Epilepsy, progressive myoclonic, 1B | 2022-08-10 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 641 of the PRICKLE1 protein (p.Gly641Glu). This variant is present in population databases (rs374621616, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PRICKLE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 284893). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. |