Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001915256 | SCV002170569 | uncertain significance | Huntington disease-like 1 | 2021-02-28 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with leucine at codon 151 of the PRNP protein (p.Arg151Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRNP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
| Revvity Omics, |
RCV003130585 | SCV003812359 | uncertain significance | not provided | 2022-08-30 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004955766 | SCV005476963 | uncertain significance | Inborn genetic diseases | 2024-08-11 | criteria provided, single submitter | clinical testing | The c.452G>T (p.R151L) alteration is located in exon 2 (coding exon 1) of the PRNP gene. This alteration results from a G to T substitution at nucleotide position 452, causing the arginine (R) at amino acid position 151 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |