Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000584963 | SCV000693049 | uncertain significance | not provided | 2017-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001853955 | SCV002122884 | uncertain significance | Pigmentary pallidal degeneration | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with methionine at codon 266 of the PANK2 protein (p.Val266Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs753145257, ExAC 0.004%). This variant has not been reported in the literature in individuals affected with PANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 493317). 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: "Deleterious"; PolyPhen-2: "Benign"; 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. |