Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000687659 | SCV000815242 | uncertain significance | Pigmentary pallidal degeneration | 2021-08-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with serine at codon 3 of the PANK2 protein (p.Arg3Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This missense change has been observed in individual(s) with clinical features of PANK2-related conditions (Invitae). 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. |
| Ambry Genetics | RCV002544786 | SCV003629138 | uncertain significance | Inborn genetic diseases | 2022-06-28 | criteria provided, single submitter | clinical testing | The c.9G>T (p.R3S) alteration is located in exon 1 (coding exon 1) of the PANK2 gene. This alteration results from a G to T substitution at nucleotide position 9, causing the arginine (R) at amino acid position 3 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |