Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540316 | SCV000646884 | uncertain significance | Epilepsy, progressive myoclonic, 1B | 2022-03-19 | 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: 469511). This variant has not been reported in the literature in individuals affected with PRICKLE1-related conditions. This variant is present in population databases (rs200558941, gnomAD 0.007%). This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 134 of the PRICKLE1 protein (p.Asn134His). |