Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000597357 | SCV000706024 | uncertain significance | not provided | 2017-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001219523 | SCV001391467 | uncertain significance | Epilepsy, progressive myoclonic, 1B | 2022-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 235 of the PRICKLE1 protein (p.Gly235Ser). This variant is present in population databases (rs375197568, gnomAD 0.01%). 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: 500189). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PRICKLE1 protein function. 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. |
Mayo Clinic Laboratories, |
RCV000597357 | SCV002541528 | uncertain significance | not provided | 2021-08-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003243210 | SCV003966312 | uncertain significance | Inborn genetic diseases | 2023-05-26 | criteria provided, single submitter | clinical testing | Does not currently meet published gene-disease clinical validity criteria. Smith, 2017 Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Centre de Biologie Pathologie Génétique, |
RCV001252362 | SCV001428116 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |