Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000655349 | SCV000777279 | uncertain significance | Progressive myoclonic epilepsy type 5 | 2017-12-22 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs775889804, ExAC 0.01%). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PRICKLE2-related disease. This sequence change replaces glycine with arginine at codon 134 of the PRICKLE2 protein (p.Gly134Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. |
Ambry Genetics | RCV002534228 | SCV003643652 | uncertain significance | Inborn genetic diseases | 2022-08-26 | criteria provided, single submitter | clinical testing | The c.400G>A (p.G134R) alteration is located in exon 5 (coding exon 4) of the PRICKLE2 gene. This alteration results from a G to A substitution at nucleotide position 400, causing the glycine (G) at amino acid position 134 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |