Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000694794 | SCV000823254 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2023-12-17 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1416 of the ALK protein (p.Lys1416Asn). This variant is present in population databases (rs55782189, gnomAD 0.06%). This missense change has been observed in individual(s) with glioma (PMID: 33486679). ClinVar contains an entry for this variant (Variation ID: 573190). 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 tolerated. 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. |
Gene |
RCV001797129 | SCV002038950 | uncertain significance | not provided | 2021-06-15 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: Lai2018[Abstract], 27535533) |