Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732725 | SCV000860706 | uncertain significance | not provided | 2018-04-12 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000732725 | SCV001144864 | uncertain significance | not provided | 2019-06-04 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000732725 | SCV001715305 | uncertain significance | not provided | 2020-02-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855692 | SCV002233657 | uncertain significance | Pigmentary pallidal degeneration | 2022-07-12 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 169 of the PANK2 protein (p.Ser169Thr). This variant is present in population databases (no rsID available, gnomAD 0.9%). 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: 596781). 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: "Benign"; 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. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000732725 | SCV004099085 | uncertain significance | not provided | 2023-08-30 | criteria provided, single submitter | clinical testing | PM2 |