Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540490 | SCV000648736 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2024-01-12 | 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 1398 of the ALK protein (p.Pro1398Leu). This variant is present in population databases (rs531490912, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with ALK-related conditions. ClinVar contains an entry for this variant (Variation ID: 470866). 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. 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, |
RCV000540490 | SCV000897000 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003226944 | SCV003923876 | uncertain significance | not provided | 2022-11-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with breast or kidney cancer (Yehia et al., 2018); This variant is associated with the following publications: (PMID: 29684080) |
Baylor Genetics | RCV000540490 | SCV004198645 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2023-09-28 | criteria provided, single submitter | clinical testing |