Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226962 | SCV000285522 | uncertain significance | Werner syndrome | 2022-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 551 of the WRN protein (p.Pro551Leu). This variant is present in population databases (rs781107893, gnomAD 0.01%). This missense change has been observed in individual(s) with acute lymphocytic leukemia (PMID: 32359129). ClinVar contains an entry for this variant (Variation ID: 238125). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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. |
Fulgent Genetics, |
RCV000226962 | SCV002799564 | uncertain significance | Werner syndrome | 2022-05-17 | criteria provided, single submitter | clinical testing |