Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Oncology Research Center, |
RCV001374567 | SCV001438646 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2020-08-01 | criteria provided, single submitter | research | |
Invitae | RCV002537619 | SCV003463075 | uncertain significance | not provided | 2023-07-07 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 981877). This variant has not been reported in the literature in individuals affected with LIFR-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1030 of the LIFR protein (p.Pro1030Leu). |