Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003448723 | SCV004176375 | uncertain significance | Pigmentary pallidal degeneration | 2023-02-14 | criteria provided, single submitter | clinical testing | The stop lost variant c.1383A>G(p.Ter461TrpextTer33) in PANK2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The p.Ter461TrpextTer33 variant in the stop codon (Ter/*) at position 461, changing it to a Tryptophan-codon (a no-stop variant) and adding a tail of new amino acids to the protein’s C-terminus, ending at a new stop codon (Ter/*) at position 33. Since the variant is present in the last exon, functional evidence is required to prove its pathogenicity. For these reasons, this variant has been classified as Uncertain Significance. In the absence of another reportable variant, the molecular diagnosis is not confirmed. |