Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000180007 | SCV000232341 | uncertain significance | not provided | 2014-07-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000475911 | SCV000551465 | uncertain significance | Epilepsy, progressive myoclonic, 1B | 2022-02-20 | 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. 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. ClinVar contains an entry for this variant (Variation ID: 198621). This variant has not been reported in the literature in individuals affected with PRICKLE1-related conditions. This variant is present in population databases (rs570770626, gnomAD 0.06%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 479 of the PRICKLE1 protein (p.Gly479Arg). |